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
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	0.647000													54	142					0	0	1	0	0
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	0.303000													19	41					1.56452e-12	1.74053e-12	1	1	0
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	0.652000													3	81					1	1	1	1	0
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	0.532000													93	302					0	0	1	0	0
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	0.637000													12	41					0	0	1	0	0
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	0.363000									Kartagener syndrome				6	325					0	0	1	0	0
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	0.567000									Ichthyosis				43	158					0	0	1	0	0
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	0.592000													21	52					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	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.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				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	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	93					0	0	1	0	0
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	0.343000													21	71					0	0	1	0	0
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	0.363000													3	88					0.115264	0.122125	1	1	0
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	0.353000													31	71					0	0	1	0	0
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	0.507000													3	119					0.115264	0.122125	1	1	0
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	0.398000													3	93					0.115264	0.122125	1	1	0
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	0.507000			"""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
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	0.512000													4	235					0	0	1	0	0
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	0.388000													23	43					0	0	1	0	0
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	0.522000													10	11					0	0	1	0	0
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	0.637000													13	448					0	0	1	0	0
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	0.468000													50	106					0	0	1	0	0
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	0.567000													32	90					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	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.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				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	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	94					0	0	1	0	0
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	0.512000													53	135					0	0	1	0	0
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	0.736000													3	6					0	0	1	0	0
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	0.308000													18	18					0	0	1	0	0
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	0.388000													3	94					1	1	1	1	0
TMEM245	23731	broad.mit.edu	37	9	111782777	111782777	+	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.chr9:111782777C>A	ENST00000374586.3	-	18	2634	c.2603G>T	c.(2602-2604)cGt>cTt	p.R868L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	868						integral to membrane											AGAAATGTCACGGAAAGTCCT	0.353000													3	118					1	1	1	1	0
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	0.338000													34	85					0	0	1	0	0
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	0.657000													3	9					0	0	1	0	0
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	0.572000													32	97					0	0	1	0	0
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	0.542000													7	6					0	0	1	0	0
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	0.657000													11	41					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	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.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	42					0	0	1	0	0
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	0.284000													21	68					0	0	1	0	0
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	0.632000													39	108					0	0	1	0	0
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	0.622000													28	64					0	0	1	0	0
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	0.517000											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
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	0.493000													4	250					1	1	1	1	0
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	0.373000													22	56					0	0	1	0	0
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	0.448000													36	124					0	0	1	0	0
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	0.617000													33	40					0	0	1	0	0
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	0.428000													58	158					0	0	1	0	0
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	0.612000													3	23					0	0	1	0	0
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	0.567000													113	132					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2098	2098	+	RNA	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.chrM:2098G>A	ENST00000387347.2	+	0	428					NR_039705.1																						ATTTAACTGTTAGTCCAAAGA	0.398000													4	35					0	0	1	0	0
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	0.403000													27	83					0	0	1	0	0
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	0.363000													5	141					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11711	11711	+	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.chrM:11711G>A	ENST00000361381.2	+	1	952	c.952G>A	c.(952-954)Gcc>Acc	p.A318T						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TTCTCATAATCGCCCACGGAC	0.483000													5	27					0	0	1	0	0
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	0.473000													38	94					0	0	1	0	0
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	0.547000													145	229					0	0	1	0	0
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	0.502000													46	131					0	0	1	0	0
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	0.697000													4	36					0.00198382	0.00217975	1	1	0
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	0.493000													4	139					0	0	1	0	0
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	0.408000										HNSCC(61;0.18)			60	49					0	0	1	0	0
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	0.592000													26	69					0	0	1	0	0
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	0.323000													4	151					0	0	1	0	0
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	0.617000													23	94					0	0	1	0	0
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	0.582000													23	31					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	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.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	81					0	0	1	0	0
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	0.587000													6	16					0	0	1	0	0
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	0.647000													36	138					0	0	1	0	0
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	0.418000													63	126					0	0	1	0	0
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	0.448000													12	62					0	0	1	0	0
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	0.473000													45	109					0	0	1	0	0
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	0.562000													22	181					0	0	1	0	0
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	0.662000													4	104					0	0	1	0	0
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	0.542000													3	179					0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388981	39388981	+	Silent	SNP	T	T	C	rs143261478	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.chr17:39388981T>C	ENST00000411528.2	+	1	267	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	76	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding	p.C76C(2)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTTCCTGCTGTAGCACACCCT	0.602000													3	37					0	0	1	0	0
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	0.667000													20	70					0	0	1	0	0
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	0.577000													46	116					0	0	1	0	0
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	0.517000													6	61					0	0	1	0	0
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	0.413000													11	37					0	0	1	0	0
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	0.522000													6	222					0	0	1	0	0
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	0.388000									Kartagener syndrome				10	39					0	0	1	0	0
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	0.358000													21	47					0	0	1	0	0
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	0.597000													8	29					0	0	1	0	0
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	0.507000													66	62					0	0	1	0	0
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	0.647000													5	13					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16960908	16960913	+	RNA	DEL	GTGTGC	GTGTGC	-	rs71703041	by1000genomes	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.chr1:16960908_16960913delGTGTGC	ENST00000412962.1	-	0	16																											gtgtgtgtgtgtgtgcgcgtgtgtgA	0.437													4	2	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	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.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													3	3	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		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.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1																						AGAAGGCTACCTCCTGTAAGAA	0.356													3	3	---	---	---	---					
MRVI1-AS1	100129827	broad.mit.edu	37	11	10578247	10578248	+	RNA	INS	-	-	CCTT	rs71034772	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.chr11:10578247_10578248insCCTT	ENST00000529979.1	+	0	246				MRVI1-AS1_ENST00000529829.1_RNA	NR_046374.1																						AGCCAGCCCACccttccttcct	0.411													2	4	---	---	---	---					
DAOA-AS1	282706	broad.mit.edu	37	13	106148111	106148114	+	RNA	DEL	CTTC	CTTC	-			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.chr13:106148111_106148114delCTTC	ENST00000448407.1	-	0	100					NR_040247.1																						GGATCTTTCTcttccttccttcct	0.353													3	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	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.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	5	---	---	---	---					
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	---	---	---	---					
