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
COL4A3	1285	broad.mit.edu	37	2	228118887	228118887	+	Silent	SNP	C	C	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:228118887C>G	ENST00000396578.3	+	14	987	c.825C>G	c.(823-825)ccC>ccG	p.P275P	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	275	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)		CTCCTGGACCCTCAGTAGGTT	0.393000													3	52					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140229963	140229963	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140229963C>T	ENST00000378122.3	+	1	2607	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T628M|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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)			GGGCTGTACACGGGCGAGATC	0.677000													13	56					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72970018	72970018	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:72970018G>A	ENST00000262209.4	-	9	1234	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	343						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)	AGTGGAGAGCGTCCTTCAGAA	0.343000													24	68					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91312419	91312419	+	Silent	SNP	C	C	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr15:91312419C>G	ENST00000355112.3	+	11	2482	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	BLM_ENST00000560509.1_Silent_p.L788L|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	788	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)			AGAGGAAGCTCTTGGCACGTT	0.353000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				4	126					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500554	155500554	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:155500554G>A	ENST00000461783.3	+	14	3944	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	TIAM2_ENST00000360366.4_Missense_Mutation_p.V915M|TIAM2_ENST00000456144.1_Missense_Mutation_p.V891M|TIAM2_ENST00000456877.2_Missense_Mutation_p.V203M|TIAM2_ENST00000367174.2_Missense_Mutation_p.V267M|TIAM2_ENST00000318981.5_Missense_Mutation_p.V891M|TIAM2_ENST00000529824.2_Missense_Mutation_p.V891M|TIAM2_ENST00000528391.2_Missense_Mutation_p.V227M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	891	PDZ.				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)		TGTTTATGACGTGCAGCTCAC	0.408000													28	113					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16941092	16941092	+	Missense_Mutation	SNP	G	G	A	rs144422027		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:16941092G>A	ENST00000377833.4	-	54	8566	c.8501C>T	c.(8500-8502)aCg>aTg	p.T2834M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2834	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)	AGTAATGGCCGTCCAGGAACA	0.428000													4	99					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140774055	140774055	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140774055G>A	ENST00000398604.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_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)			GAATGACAACGCGCCCGAGAT	0.657000													4	133					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97166221	97166221	+	RNA	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:97166221C>T	ENST00000310865.3	-	0	706									neuralized E3 ubiquitin protein ligase 3																		TCCATCACGGCCCAGAGCGGG	0.716000													6	9					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841775	129841775	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:129841775C>A	ENST00000397622.2	-	5	610	c.488G>T	c.(487-489)aGc>aTc	p.S163I	TMEM209_ENST00000473456.1_Missense_Mutation_p.S163I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S162I|TMEM209_ENST00000462753.1_Missense_Mutation_p.S162I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	163	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)					CAGCTGAGGGCTGTAACCAGT	0.517000													6	26					8.12818e-05	8.71932e-05	1	1	0
BCL11B	64919	broad.mit.edu	37	14	99642013	99642013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:99642013G>A	ENST00000345514.2	-	3	1213	c.947C>T	c.(946-948)cCt>cTt	p.P316L	BCL11B_ENST00000357195.3_Missense_Mutation_p.P387L|BCL11B_ENST00000443726.2_Missense_Mutation_p.P193L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	387						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)		CCGGTGCATAGGGTTGCCGCG	0.756000			T	TLX3	T-ALL								3	1					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92901950	92901950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:92901950C>T	ENST00000544910.1	+	12	836	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q47*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Nonsense_Mutation_p.Q236*|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q236*	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	236										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)			TATATAGGAACAGCTGGACGT	0.328000													4	33					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970886	123970886	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:123970886G>C	ENST00000369005.1	+	9	7286	c.6946G>C	c.(6946-6948)Gcc>Ccc	p.A2316P	TACC2_ENST00000369000.1_Missense_Mutation_p.A20P|TACC2_ENST00000260733.3_Missense_Mutation_p.A394P|TACC2_ENST00000360561.3_Missense_Mutation_p.A394P|TACC2_ENST00000515603.1_Missense_Mutation_p.A2271P|TACC2_ENST00000513429.1_Missense_Mutation_p.A462P|TACC2_ENST00000358010.1_Missense_Mutation_p.A462P|TACC2_ENST00000369001.1_Missense_Mutation_p.A20P|TACC2_ENST00000515273.1_Missense_Mutation_p.A2320P|TACC2_ENST00000334433.3_Missense_Mutation_p.A2316P|TACC2_ENST00000453444.2_Missense_Mutation_p.A2320P|TACC2_ENST00000369004.3_Missense_Mutation_p.A394P|TACC2_ENST00000368999.1_Missense_Mutation_p.A394P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2316	SPAZ.					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)				CAACACTCCTGCCTCACCTCC	0.488000													5	162					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411082	45411082	+	Nonsense_Mutation	SNP	G	G	T	rs142480126		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr19:45411082G>T	ENST00000252486.4	+	3	220	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	37					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)	CCAGCAGACCGAGTGGCAGAG	0.637000													3	26					1	1	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51524479	51524479	+	Missense_Mutation	SNP	C	C	T	rs143915416		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:51524479C>T	ENST00000371117.3	-	61	10720	c.10445G>A	c.(10444-10446)cGc>cAc	p.R3482H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (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)					TAGAAAAAAGCGCAAAACTTG	0.443000													22	68					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350665	96350665	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr12:96350665G>A	ENST00000266736.2	+	4	618	c.512G>A	c.(511-513)cGc>cAc	p.R171H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	171					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						AAGATGCTGCGCGTGATTGAG	0.627000													19	86					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079700	23079700	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:23079700C>T	ENST00000219689.7	-	16	3725	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T	USP31_ENST00000567975.1_Silent_p.T535T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1242					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)		TGCCAAGATCCGTCGAGCGCC	0.542000													9	237					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5500777	5500777	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:5500777C>T	ENST00000282908.5	+	12	1634	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	STK32B_ENST00000510398.1_Silent_p.L357L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.L327L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	404							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						ACAACCTCCTCACCCACACCT	0.647000													5	17					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360591	42360591	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:42360591T>A	ENST00000298119.4	+	4	2713	c.1524T>A	c.(1522-1524)ttT>ttA	p.F508L	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	508						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)		GCATCCAGTTTACTACGGAAC	0.448000										HNSCC(30;0.082)			6	232					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26151923	26151923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:26151923C>T	ENST00000264712.3	-	8	2885	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	769	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.R769Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGAGGCCGCTGAGGACT	0.602000													4	62					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713983	32713983	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:32713983G>T	ENST00000373582.3	+	2	462	c.273G>T	c.(271-273)caG>caT	p.Q91H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	91										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGGAGATGCAGGCGCAGGACA	0.697000											OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	1					0.004672	0.00492229	1	1	0
RP1	6101	broad.mit.edu	37	8	55541086	55541086	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:55541086T>G	ENST00000220676.1	+	4	4792	c.4644T>G	c.(4642-4644)agT>agG	p.S1548R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1548					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)			AGCAAAATAGTGAAAAGGAGA	0.328000													5	53					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780567	37780567	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:37780567C>T	ENST00000447769.1	+	4	861	c.572C>T	c.(571-573)gCc>gTc	p.A191V	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.A191V|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	191						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						TTTGTCATAGCCGTTGCTGTG	0.408000													6	110					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129265	3129265	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr20:3129265A>G	ENST00000380266.3	-	2	773	c.452T>C	c.(451-453)gTc>gCc	p.V151A	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	151					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						ATTAACTCTGACTTTGTGCAA	0.428000													3	56					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650041	48650041	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr17:48650041C>T	ENST00000352832.5	+	6	1245	c.873C>T	c.(871-873)gaC>gaT	p.D291D	CACNA1G_ENST00000514717.1_Silent_p.D291D|CACNA1G_ENST00000505165.1_Silent_p.D291D|CACNA1G_ENST00000442258.2_Silent_p.D291D|CACNA1G_ENST00000507896.1_Silent_p.D291D|CACNA1G_ENST00000429973.2_Silent_p.D291D|CACNA1G_ENST00000507510.2_Silent_p.D291D|CACNA1G_ENST00000416767.4_Silent_p.D291D|CACNA1G_ENST00000354983.4_Silent_p.D291D|CACNA1G_ENST00000513964.1_Silent_p.D291D|CACNA1G_ENST00000515765.1_Silent_p.D291D|CACNA1G_ENST00000358244.5_Silent_p.D291D|CACNA1G_ENST00000510115.1_Silent_p.D291D|CACNA1G_ENST00000514079.1_Silent_p.D291D|CACNA1G_ENST00000503485.1_Silent_p.D291D|CACNA1G_ENST00000502264.1_Silent_p.D291D|CACNA1G_ENST00000514181.1_Silent_p.D291D|CACNA1G_ENST00000510366.1_Silent_p.D291D|CACNA1G_ENST00000359106.5_Silent_p.D291D|CACNA1G_ENST00000515411.1_Silent_p.D291D|CACNA1G_ENST00000512389.1_Silent_p.D291D|CACNA1G_ENST00000507609.1_Silent_p.D291D|CACNA1G_ENST00000513689.2_Silent_p.D291D|CACNA1G_ENST00000360761.4_Silent_p.D291D|CACNA1G_ENST00000507336.1_Silent_p.D291D|CACNA1G_ENST00000515165.1_Silent_p.D291D	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	291	Poly-Gly.				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)	TGCGCGGGGACGGGGGCGGTG	0.612000													6	5					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1407766	1407766	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:1407766A>C	ENST00000381524.3	+	6	644	c.458A>C	c.(457-459)tAc>tCc	p.Y153S	CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y20S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y153S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y153S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	153						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)	TATTTTTTGTACATACGAAAC	0.433000													7	92					0	0	1	0	0
GRIA4	0	broad.mit.edu	37	11	105845210	105845210	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:105845210G>A	ENST00000393127.2	+	16	3029	c.2583G>A	c.(2581-2583)tcG>tcA	p.S861S	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Silent_p.S861S|GRIA4_ENST00000530497.1_Intron	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	0					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)	CAACTTCCTCGCAGAATACCC	0.438000													10	55					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324252	27324252	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:27324252G>C	ENST00000376087.4	-	24	3292	c.3127C>G	c.(3127-3129)Cgt>Ggt	p.R1043G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1059G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R600G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1042						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						TCCTGTAAACGAGAACATTCA	0.348000													36	72					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271265	1271265	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:1271265C>T	ENST00000308624.5	+	14	1335	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	SNTG2_ENST00000407292.1_Silent_p.N275N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	402	PH.				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)		ATGTTTTCAACGTGGAGCTTG	0.512000													3	15					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1053824	1053824	+	Splice_Site	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:1053824G>C	ENST00000259622.6	+	2	628	c.628_splice	c.e2+1	p.V210_splice	DMRT2_ENST00000302441.6_Splice_Site_p.G210_splice|DMRT2_ENST00000382255.3_Splice_Site_p.V210_splice|DMRT2_ENST00000358146.2_Splice_Site_p.G210_splice|DMRT2_ENST00000412350.2_Splice_Site_p.V210_splice|DMRT2_ENST00000382251.3_Splice_Site_p.G210_splice			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	0					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)		CATTTTAGAAGGTAAAGCAAC	0.413000													7	36					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152671420	152671420	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:152671420G>A	ENST00000367255.5	-	72	12385	c.11784C>T	c.(11782-11784)aaC>aaT	p.N3928N	SYNE1_ENST00000341594.5_Silent_p.N3852N|SYNE1_ENST00000265368.4_Silent_p.N3928N|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3928					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)		GGAGCTCACTGTTGTAGTCTT	0.512000										HNSCC(10;0.0054)			8	49					0	0	1	0	0
S100A9	6280	broad.mit.edu	37	1	153330777	153330777	+	Silent	SNP	G	G	A	rs112531265	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:153330777G>A	ENST00000368738.3	+	2	61	c.18G>A	c.(16-18)tcG>tcA	p.S6S		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	6				S -> H (in Ref. 12; AA sequence).	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)			GCAAAATGTCGCAGCTGGAAC	0.478000													6	41					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22260137	22260137	+	Splice_Site	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:22260137G>T	ENST00000263026.5	+	4	882		c.e4+1			NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 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)		GGCATCTCAGGTGAGCAGAGC	0.547000													7	33					0.27861	0.288386	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135983422	135983422	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:135983422C>A	ENST00000393160.3	-	6	1338	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	RALGDS_ENST00000542690.1_Missense_Mutation_p.V455L|RALGDS_ENST00000372050.3_Missense_Mutation_p.V384L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V355L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V372L|RALGDS_ENST00000393157.3_Missense_Mutation_p.V383L|RALGDS_ENST00000469972.1_5'UTR	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	384					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)		GGAGGGAACACCAAGAGGTGA	0.592000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	41					4.3838e-07	4.88008e-07	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50740946	50740946	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:50740946G>C	ENST00000355832.5	-	2	143	c.65C>G	c.(64-66)cCt>cGt	p.P22R	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P22R|PGBD3_ENST00000603152.1_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P22R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	22					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						ATTACTGACAGGTTGACTCTG	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					4	61					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216219901	216219901	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:216219901G>A	ENST00000366943.2	-	32	6583	c.6197C>T	c.(6196-6198)tCc>tTc	p.S2066F	USH2A_ENST00000307340.3_Missense_Mutation_p.S2066F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2066	Fibronectin type-III 7.				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)		ACTGGGAAGGGATTTGGCTAC	0.408000										HNSCC(13;0.011)			18	31					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420161	203420161	+	Silent	SNP	A	A	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:203420161A>T	ENST00000374580.4	+	12	2312	c.1773A>T	c.(1771-1773)cgA>cgT	p.R591R	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	591					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACTATGAACGACAGCAAGCAC	0.458000													10	50					0	0	1	0	0
PTPN12	0	broad.mit.edu	37	7	77256290	77256290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:77256290C>T	ENST00000248594.6	+	13	1566	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R302*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R313*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	432	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						AAAATTGGAACGAAATTTAAG	0.338000													3	60					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811348	73811348	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:73811348A>G	ENST00000332687.6	-	4	2020	c.1802T>C	c.(1801-1803)tTa>tCa	p.L601S	RLIM_ENST00000349225.2_Missense_Mutation_p.L601S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	601					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						ATTCTCAGATAACCAGCGATC	0.408000													43	6					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192375	123192375	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:123192375C>T	ENST00000264501.4	+	47	8069	c.7696C>T	c.(7696-7698)Cat>Tat	p.H2566Y	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2566Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2566Y			Q2LD37	K1109_HUMAN	KIAA1109	2566					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						AATAAGCCAGCATGTAGATAT	0.383000													75	171					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:178410177C>T	ENST00000231188.5	-	9	2348	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					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)		TAGTCAATCACGCTGTGTGGG	0.607000													14	30					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70164411	70164411	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:70164411G>A	ENST00000288050.4	+	7	1650	c.693G>A	c.(691-693)caG>caA	p.Q231Q	PDPR_ENST00000398122.3_Silent_p.Q131Q|PDPR_ENST00000568530.1_Silent_p.Q231Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	231					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)		ATAAAGGACAGATTGAATGCC	0.418000													5	43					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739052	164739052	+	Silent	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr3:164739052G>A	ENST00000264382.3	-	27	3281	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID).		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)	GAATCTGGATGCCAAAAGGAT	0.343000										HNSCC(35;0.089)			57	117					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55569614	55569614	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:55569614T>G	ENST00000294383.6	-	42	4959	c.4960A>C	c.(4960-4962)Att>Ctt	p.I1654L	USP24_ENST00000407756.1_Missense_Mutation_p.I1494L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1654					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						TTTATAATAATTTGAAGATTT	0.388000													15	7					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84089609	84089609	+	Splice_Site	SNP	C	C	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:84089609C>A	ENST00000343411.3	-	22	3458		c.e22+1			NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						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						CGAGAACTCACCTCCAGGAAT	0.567000													12	40					2.80697e-09	3.18484e-09	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79117782	79117782	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:79117782A>T	ENST00000442371.1	+	3	1424	c.485A>T	c.(484-486)tAt>tTt	p.Y162F	GCNT1_ENST00000444201.2_Missense_Mutation_p.Y162F|GCNT1_ENST00000376730.4_Missense_Mutation_p.Y162F|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y162F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	162	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						GAGGATTCCTATTTAGCTGCA	0.468000													4	96					0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650900	35650900	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:35650900G>A	ENST00000259608.3	-	0	37				SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1						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)			CCTCAGGCCCGTACCCCGCAG	0.582000													3	3					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3608	3608	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrM:3608G>A	ENST00000361390.2	+	1	302	c.302G>A	c.(301-303)gGc>gAc	p.101_101insD						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						CCTCAACCTAGGCCTCCTATT	0.547000													3	0					0	0	1	0	0
C10orf99	387695	broad.mit.edu	37	10	85936271	85936271	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:85936271A>G	ENST00000372126.3	+	2	220	c.106A>G	c.(106-108)Aga>Gga	p.R36G		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	36						extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GTCAGGCAGGAGAACCAGGCT	0.572000													23	42					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800526	21800526	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:21800526G>A	ENST00000443632.2	+	2	1714	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	HIC2_ENST00000407464.2_Missense_Mutation_p.A448T|HIC2_ENST00000407598.2_Missense_Mutation_p.A448T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	448					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)				CATTCCCTGCGCCAAGGGCTT	0.622000													13	75					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444669	17444669	+	Silent	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:17444669C>T	ENST00000400588.1	-	9	1634	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	509										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)				TGCTCCTCGGCGGGGCTGAAC	0.617000													4	32					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'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)		ATCTCAGCCACGGACAGCTGC	0.607000													4	147					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784130	151784130	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:151784130G>T	ENST00000255262.3	-	1	710	c.545C>A	c.(544-546)aCc>aAc	p.T182N	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	182					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)			ATGGATGCTGGTGTTGGGCAG	0.607000													9	79					1.12685e-05	1.23119e-05	1	1	0
TRIM29	23650	broad.mit.edu	37	11	120008274	120008274	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:120008274C>T	ENST00000341846.5	-	1	887	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	156					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)		CCCGTGTCGGCCCGGGGGTAG	0.642000													5	110					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	225119	225119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr18:225119delG	ENST00000261600.6	-	14	1114	c.1107delC	c.(1105-1107)ccfs	p.P369fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	369					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)				TTTCTCCATCGGGGGGGTTTT	0.388													2	4	---	---	---	---