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
TTN	7273	broad.mit.edu	37	2	179611406	179611406	+	Missense_Mutation	SNP	C	C	G	rs147119153		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611406C>G	ENST00000360870.5	-	46	15943	c.15721G>C	c.(15721-15723)Gaa>Caa	p.E5241Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8760	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5241K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGAAATTTCCAGTGAACAC	0.393000													10	155					0	0	0.006214	0	0
PDS5B	23047	broad.mit.edu	37	13	33344579	33344579	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:33344579C>G	ENST00000315596.10	+	32	4131	c.3945C>G	c.(3943-3945)agC>agG	p.S1315R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1315					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGGAAGCAAAAAAAAAT	0.438000													4	34					0	0	0.014758	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91389537	91389537	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:91389537C>G	ENST00000261991.3	-	6	795	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E129Q|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E208Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	208	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TATGCTCTTTCAGTCTTGAAC	0.353000													6	37					0	0	0.021553	0	0
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	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)			GTCTGCACCCTTTTTCTGTCA	0.507000													3	151					0	0	0.009096	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862205	11862205	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:11862205C>G	ENST00000396516.2	-	11	1523	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.L442F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	442						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAGCTTGTCTCAATTCATGGG	0.413000													38	181					0	0	0.048971	0	0
IQGAP1	8826	broad.mit.edu	37	15	90934036	90934036	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:90934036A>T	ENST00000268182.5	+	2	210	c.86A>T	c.(85-87)gAg>gTg	p.E29V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.E29V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	29					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTACTGCAGAGGAGATGGAT	0.423000													10	103					0	0	0.013537	0	0
KAT6B	23522	broad.mit.edu	37	10	76788729	76788729	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:76788729G>C	ENST00000287239.4	+	18	4636	c.4147G>C	c.(4147-4149)Gat>Cat	p.D1383H	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1200H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1091H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1383					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										aaaagaTCCAGATGGTGCTAA	0.468000													7	46					0	0	0.029380	0	0
MED12	9968	broad.mit.edu	37	X	70346843	70346843	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:70346843G>C	ENST00000333646.6	+	20	2909	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	MED12_ENST00000374102.1_Missense_Mutation_p.E904Q|MED12_ENST00000374080.3_Missense_Mutation_p.E904Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	904					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAGTGTAGTTGAGGCTGAGCT	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	102					0	0	0.008291	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184626188	184626188	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:184626188T>A	ENST00000334690.6	+	27	3222	c.3020T>A	c.(3019-3021)gTg>gAg	p.V1007E	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.V1007E|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.V613E	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	1007																	CTGCCGCACGTGATTGTGGAG	0.393000													21	135					0	0	0.018920	0	0
ADRB2	154	broad.mit.edu	37	5	148206508	148206508	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148206508C>T	ENST00000305988.4	+	1	353	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	38					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GCATGGGCATCGTCATGTCTC	0.592000													16	127					0	0	0.038395	0	0
DRD3	1814	broad.mit.edu	37	3	113850003	113850003	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:113850003C>A	ENST00000383673.2	-	6	1398	c.968G>T	c.(967-969)cGg>cTg	p.R323L	DRD3_ENST00000467632.1_Missense_Mutation_p.R323L|DRD3_ENST00000295881.7_Missense_Mutation_p.R290L|DRD3_ENST00000460779.1_Missense_Mutation_p.R323L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	323					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTCTTCTCCCGAAGTGGCAC	0.512000													22	109					7.41877e-09	8.21364e-09	0.012319	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996182	140996182	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:140996182C>A	ENST00000285879.4	+	4	3278	c.2992C>A	c.(2992-2994)Cgc>Agc	p.R998S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R65S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	998	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCAGAACCGCCTCCTGAT	0.512000										HNSCC(15;0.026)			20	185					2.37509e-13	2.7126e-13	0.055883	1	0
FAM124A	220108	broad.mit.edu	37	13	51854623	51854623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:51854623G>C	ENST00000322475.8	+	4	1007	c.872G>C	c.(871-873)aGa>aCa	p.R291T	FAM124A_ENST00000280057.6_Missense_Mutation_p.R327T	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	291										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AAACCTGGCAGAGTACATCAT	0.517000													8	46					0	0	0.047766	0	0
MKS1	54903	broad.mit.edu	37	17	56289744	56289744	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56289744C>G	ENST00000393119.2	-	9	984	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q|MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	304					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCACCATCTCAAAGTCGGTG	0.502000													18	84					0	0	0.014323	0	0
MST1R	4486	broad.mit.edu	37	3	49927421	49927421	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:49927421C>T	ENST00000296474.3	-	19	3910	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	MST1R_ENST00000344206.4_Missense_Mutation_p.D1246N	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1295	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.602000													11	83					0	0	0.010729	0	0
C8orf34	116328	broad.mit.edu	37	8	69358708	69358708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:69358708C>G	ENST00000523686.1	+	3	411	c.362C>G	c.(361-363)tCt>tGt	p.S121C	C8orf34_ENST00000518698.1_Intron|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_Intron|C8orf34_ENST00000337103.4_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	448					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGGAAGTCTCTTATTCAAAT	0.338000													12	57					0	0	0.010729	0	0
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43622444G>A	ENST00000305641.5	-	1	359	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652000													5	48					0	0	0.014758	0	0
PDCL3	79031	broad.mit.edu	37	2	101188255	101188255	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:101188255G>C	ENST00000264254.6	+	5	950	c.572G>C	c.(571-573)aGa>aCa	p.R191T		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	191					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AACCTGACAAGAGATGGTAAG	0.502000													30	162					0	0	0.045705	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474426	99474426	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:99474426G>A	ENST00000316368.2	-	1	254	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	77			I -> T (in dbSNP:rs2572023).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTCAGGATGATTGTGGAGA	0.483000													16	71					0	0	0.024245	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940261	70940261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:70940261C>T	ENST00000359655.4	+	1	274	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	72					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGAAACCTCAGGGCCCCAG	0.637000													24	108					0	0	0.018920	0	0
TBC1D25	4943	broad.mit.edu	37	X	48417355	48417355	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:48417355G>C	ENST00000376771.4	+	4	800	c.459G>C	c.(457-459)gaG>gaC	p.E153D	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_Intron|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	153						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGGCTGAGAAACGGTCAT	0.537000													6	68					0	0	0.021553	0	0
GPR149	344758	broad.mit.edu	37	3	154146734	154146734	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:154146734C>T	ENST00000389740.2	-	1	770	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTGGAGTCTCGGCGGCTC	0.577000													10	84					0	0	0.010729	0	0
WDR11	55717	broad.mit.edu	37	10	122619653	122619653	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:122619653C>T	ENST00000263461.6	+	4	631	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	129						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGATGCTTCCCGCGATTTACT	0.448000													26	89					0	0	0.030593	0	0
MAP1A	4130	broad.mit.edu	37	15	43814803	43814803	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43814803G>A	ENST00000382031.1	+	5	1877	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E378K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E378K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	378						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCAAGCCTGAGAGGGTGAA	0.493000													4	29					0	0	0.009096	0	0
MTMR7	9108	broad.mit.edu	37	8	17157648	17157648	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:17157648G>C	ENST00000180173.5	-	14	1740	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MTMR7_ENST00000398099.3_Missense_Mutation_p.S160C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	569							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GTCTGAGGTAGAAAACCCTGA	0.438000													25	155					0	0	0.024334	0	0
SYPL1	6856	broad.mit.edu	37	7	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:105752650G>A	ENST00000455385.2	-	1	127	c.5C>T	c.(4-6)tCc>tTc	p.S2F	SYPL1_ENST00000011473.2_Missense_Mutation_p.S20F|SYPL1_ENST00000470347.1_Missense_Mutation_p.S2F	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	20					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CTGGAAGCCGGACATCCTCTG	0.682000													7	53					0	0	0.029380	0	0
PKHD1	5314	broad.mit.edu	37	6	51934279	51934279	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51934279G>C	ENST00000371117.3	-	11	1029	c.754C>G	c.(754-756)Ctt>Gtt	p.L252V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L252V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	252					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)					TATAGGAAAAGATCCTGTTTA	0.453000													42	247					0	0	0.048971	0	0
MOCS2	4338	broad.mit.edu	37	5	52397223	52397223	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:52397223G>A	ENST00000396954.3	-	5	1020	c.343C>T	c.(343-345)Cca>Tca	p.P115S	MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TGTTTGACTGGCCATTTCTGC	0.358000													4	229					0	0	0.014758	0	0
NIM1K	167359	broad.mit.edu	37	5	43246074	43246074	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:43246074C>T	ENST00000512796.1	+	2	1696	c.197C>T	c.(196-198)aCg>aTg	p.T66M	NIM1_ENST00000326035.2_Missense_Mutation_p.T66M			Q8IY84	NIM1_HUMAN		66							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGGGAGATCACGCTGGGGAAA	0.552000													14	102					0	0	0.024245	0	0
DIEXF	27042	broad.mit.edu	37	1	210012455	210012455	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:210012455G>A	ENST00000491415.2	+	7	1321	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	422					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGGCAATATTGATGACCACTT	0.428000													11	87					0	0	0.020292	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418934	138418934	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:138418934G>A	ENST00000310018.2	-	16	1920	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	ATP6V0A4_ENST00000353492.4_Silent_p.I546I|ATP6V0A4_ENST00000393054.1_Silent_p.I546I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	546					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAATTCCCAGGATCACCGACA	0.428000													7	49					0	0	0.038147	0	0
SPINT1	6692	broad.mit.edu	37	15	41145359	41145359	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:41145359G>C	ENST00000344051.4	+	3	747	c.513G>C	c.(511-513)ttG>ttC	p.L171F	SPINT1_ENST00000431806.1_Missense_Mutation_p.L171F|SPINT1_ENST00000562057.1_Missense_Mutation_p.L171F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	171						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATAGACTTGAAGGTACAAC	0.557000													25	150					0	0	0.018920	0	0
MARCH11	441061	broad.mit.edu	37	5	16067874	16067874	+	Silent	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:16067874A>T	ENST00000332432.8	-	4	1114	c.915T>A	c.(913-915)gtT>gtA	p.V305V		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	305						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACACTCTGTAAACTGCAGCTC	0.408000													6	46					0	0	0.038147	0	0
EDF1	8721	broad.mit.edu	37	9	139757370	139757370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:139757370C>G	ENST00000371648.4	-	4	380	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	EDF1_ENST00000371649.1_Missense_Mutation_p.E125Q|EDF1_ENST00000224073.1_Missense_Mutation_p.E125Q	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	125	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGGCCCGCTCGATTTTGCCA	0.582000													12	83					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179529384	179529384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179529384C>A	ENST00000589042.1	-	167	36423	c.36199G>T	c.(36199-36201)Gaa>Taa	p.E12067*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10214	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATACCTTCATCAGGAAGG	0.378000													11	69					4.68919e-08	5.16525e-08	0.008291	1	0
TSR1	55720	broad.mit.edu	37	17	2234280	2234280	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:2234280G>T	ENST00000301364.4	-	9	2699	c.1620C>A	c.(1618-1620)atC>atA	p.I540I		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	540					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCTTTAAAGATGCTTTTCC	0.393000													7	66					2.0095e-06	2.15872e-06	0.029380	1	0
CCDC66	285331	broad.mit.edu	37	3	56605280	56605280	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:56605280G>A	ENST00000394672.3	+	7	956	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CCDC66_ENST00000326595.7_Missense_Mutation_p.E262K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E296K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	296										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAAATCTGAAAGTGATAA	0.269000													15	89					0	0	0.020292	0	0
CWH43	80157	broad.mit.edu	37	4	49052833	49052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:49052833G>C	ENST00000226432.4	+	15	2171	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T	CWH43_ENST00000513409.1_Missense_Mutation_p.R636T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	663					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATAGACCACAGAGAAGTTTCT	0.398000													5	51					0	0	0.014758	0	0
DNAH1	25981	broad.mit.edu	37	3	52394093	52394093	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:52394093G>A	ENST00000420323.2	+	27	4830	c.4569G>A	c.(4567-4569)ctG>ctA	p.L1523L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1523	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCACAGCTGAGGTGAGGAC	0.562000													20	93					0	0	0.014323	0	0
ZNF141	7700	broad.mit.edu	37	4	337651	337651	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000505939.1_Silent_p.L28L|ZNF141_ENST00000512994.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388000													4	145					0	0	0.029380	0	0
IPO7	10527	broad.mit.edu	37	11	9456494	9456494	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:9456494C>T	ENST00000379719.3	+	19	2230	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	696					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGCCCCTCCTTCATAATT	0.313000													9	81					0	0	0.006214	0	0
KLF6	1316	broad.mit.edu	37	10	3823969	3823969	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:3823969C>G	ENST00000497571.1	-	2	800	c.540G>C	c.(538-540)tcG>tcC	p.S180S	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Silent_p.S180S|KLF6_ENST00000542957.1_Silent_p.S180S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	180			S -> L (found in gastric cancer samples; somatic mutation).		B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGCTTCCCCGAAGTCCCGC	0.627000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	79					0	0	0.021553	0	0
GRIK3	2899	broad.mit.edu	37	1	37324810	37324810	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:37324810C>T	ENST00000373091.3	-	7	1019	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	GRIK3_ENST00000373093.4_Missense_Mutation_p.V335M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	335					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGTAGCACACGGACACGATA	0.622000													11	112					0	0	0.010729	0	0
ARPC2	10109	broad.mit.edu	37	2	219082227	219082227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:219082227G>A	ENST00000295685.10	+	1	295	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ARPC2_ENST00000315717.5_Missense_Mutation_p.E12K	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	12					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCGCATCATCGAGGAGACGCT	0.687000													6	36					0	0	0.038147	0	0
CAMKK1	84254	broad.mit.edu	37	17	3783646	3783646	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:3783646C>T	ENST00000381771.2	-	10	1051	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CAMKK1_ENST00000158166.5_Missense_Mutation_p.E302K|CAMKK1_ENST00000381769.2_Missense_Mutation_p.E291K|CAMKK1_ENST00000348335.2_Missense_Mutation_p.E264K			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	264	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCACAGTACTCGAGGCCCAGG	0.652000													7	38					0	0	0.047766	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779660	31779660	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31779660G>A	ENST00000375654.4	-	2	279	c.90C>T	c.(88-90)atC>atT	p.I30I	HSPA1L_ENST00000417199.3_Silent_p.I30I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	30					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGTTGGCGATGATCTCCACCT	0.607000													8	120					0	0	0.038147	0	0
AXIN2	8313	broad.mit.edu	37	17	63537611	63537611	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:63537611C>A	ENST00000307078.5	-	4	1334	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.V341L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	341	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGCCTTCACACTGCGATGC	0.473000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	117					5.35267e-07	5.77875e-07	0.043863	1	0
KRT74	121391	broad.mit.edu	37	12	52962128	52962128	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:52962128C>G	ENST00000549343.1	-	8	1260	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	KRT74_ENST00000305620.2_Missense_Mutation_p.D394H			Q7RTS7	K2C74_HUMAN	keratin 74	394	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGGCATTGTCTCCCCGCTGC	0.597000													10	62					0	0	0.006214	0	0
CPEB1	64506	broad.mit.edu	37	15	83215266	83215266	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:83215266C>G	ENST00000563800.1	-	11	3306	c.1581G>C	c.(1579-1581)caG>caC	p.Q527H	CPEB1_ENST00000568757.1_Missense_Mutation_p.Q425H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.Q500H|CPEB1_ENST00000562019.1_Missense_Mutation_p.Q505H|CPEB1_ENST00000450751.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000398591.2_Missense_Mutation_p.Q430H|CPEB1_ENST00000398592.2_Missense_Mutation_p.Q274H|CPEB1_ENST00000564522.1_Missense_Mutation_p.Q425H|CPEB1_ENST00000423133.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000261723.6_Missense_Mutation_p.Q503H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R235T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	505	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGGGTCAATCTGAACCTGCA	0.483000													8	74					0	0	0.038147	0	0
APOH	350	broad.mit.edu	37	17	64216816	64216816	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:64216816G>A	ENST00000205948.6	-	5	497	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	154	Sushi 3.		R -> H (in dbSNP:rs8178847).		blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTATAAACACGAAGTGTTGCA	0.383000													14	96					0	0	0.024245	0	0
ATP11A	23250	broad.mit.edu	37	13	113478732	113478732	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:113478732G>A	ENST00000487903.1	+	10	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	ATP11A_ENST00000375645.3_Missense_Mutation_p.V289M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V289M|ATP11A_ENST00000283558.8_Missense_Mutation_p.V289M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	289					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCGATCTGCCGTGGAAAAGTA	0.443000													13	85					0	0	0.020292	0	0
ING1	3621	broad.mit.edu	37	13	111372242	111372242	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:111372242T>G	ENST00000375774.3	+	2	1694	c.1232T>G	c.(1231-1233)cTg>cGg	p.L411R	ING1_ENST00000333219.7_Missense_Mutation_p.L268R|ING1_ENST00000338450.7_Missense_Mutation_p.L224R|ING1_ENST00000375775.3_Missense_Mutation_p.L199R	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	411					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACAAAGCCCTGGAGAAATCC	0.507000													8	26					0	0	0.038147	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520951	62520951	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:62520951A>T	ENST00000394807.3	-	2	461	c.336T>A	c.(334-336)gaT>gaA	p.D112E		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	112	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TACACACCAGATCCCTCTTGT	0.547000													16	71					0	0	0.033300	0	0
TP53I11	9537	broad.mit.edu	37	11	44956498	44956498	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:44956498G>T	ENST00000533940.1	-	10	1111	c.507C>A	c.(505-507)ctC>ctA	p.L169L	TP53I11_ENST00000525680.1_Silent_p.L169L|TP53I11_ENST00000308212.5_Silent_p.L169L|TP53I11_ENST00000395648.3_Silent_p.L169L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	169					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGACAAAAAGGAGGCGGCTGA	0.617000													19	137					7.92952e-12	9.00893e-12	0.021523	1	0
PKHD1	5314	broad.mit.edu	37	6	51612823	51612823	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51612823C>G	ENST00000371117.3	-	58	9866	c.9591G>C	c.(9589-9591)caG>caC	p.Q3197H	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q3197H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3197					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)					TAAGCACAATCTGCACTTTTT	0.423000													27	164					0	0	0.027356	0	0
MCM3	4172	broad.mit.edu	37	6	52129419	52129419	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:52129419G>T	ENST00000596288.1	-	17	2556	c.2529C>A	c.(2527-2529)gtC>gtA	p.V843V	MCM3_ENST00000419835.2_Silent_p.V752V|MCM3_ENST00000229854.7_Silent_p.V798V	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	798					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGACACCATGACCTGATTGT	0.532000													11	139					0.000978159	0.00102541	0.010729	1	0
LEPR	3953	broad.mit.edu	37	1	66102651	66102651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:66102651C>T	ENST00000349533.6	+	20	3636	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q218*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1151					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTTCTACTCAGACTCATAA	0.338000													5	91					0	0	0.021553	0	0
BORA	79866	broad.mit.edu	37	13	73327930	73327930	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:73327930G>A	ENST00000390667.5	+	11	1682	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	BORA_ENST00000377815.3_Missense_Mutation_p.E459K	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	529					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ATGTGAAGTTGAGAGTAAATC	0.313000													6	70					0	0	0.038147	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800705	24800705	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:24800705G>C	ENST00000395799.3	+	6	871	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E248Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	248	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTGATCCGGAGTTGGCTTC	0.458000													10	122					0	0	0.006214	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890002	6890002	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr18:6890002C>G	ENST00000419673.2	+	12	1392	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S387C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S551C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S374C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S499C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S392C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S551C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S392C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	374					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGCAAACACTCTGATTATGAA	0.398000													12	85					0	0	0.010729	0	0
KIF3A	11127	broad.mit.edu	37	5	132051521	132051521	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:132051521C>G	ENST00000378746.4	-	8	1275	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	KIF3A_ENST00000403231.1_Missense_Mutation_p.E353Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.E353Q|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	353					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGATCTTCATTAATTCTA	0.333000													9	48					0	0	0.047766	0	0
HAUS8	93323	broad.mit.edu	37	19	17170416	17170416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:17170416G>A	ENST00000593360.1	-	5	2206	c.188C>T	c.(187-189)tCa>tTa	p.S63L	HAUS8_ENST00000448593.2_Missense_Mutation_p.S123L|HAUS8_ENST00000253669.5_Missense_Mutation_p.S124L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	124					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						AGGTTTCTTTGATATTGTTTT	0.428000													13	78					0	0	0.024245	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012923	101012923	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:101012923C>T	ENST00000443071.2	-	2	236	c.91G>A	c.(91-93)Gag>Aag	p.E31K	BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E31K|BEGAIN_ENST00000556751.1_5'UTR	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	31						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GAGTCGAACTCGGTCTCGAGC	0.677000													9	51					0	0	0.006214	0	0
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:132021797C>G	ENST00000356920.5	+	15	2863	c.2769C>G	c.(2767-2769)ttC>ttG	p.F923L	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597000													17	383					0	0	0.049695	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715437	68715437	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:68715437C>G	ENST00000325631.5	+	2	299	c.225C>G	c.(223-225)ctC>ctG	p.L75L	MARVELD2_ENST00000413223.2_Silent_p.L75L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	75					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CGCCAGATCTCAAACCAGTAA	0.522000													9	66					0	0	0.006214	0	0
TMED6	146456	broad.mit.edu	37	16	69385485	69385485	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69385485G>T	ENST00000288025.3	-	1	227	c.172C>A	c.(172-174)Caa>Aaa	p.Q58K	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.A50E|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	58	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGGCAAATTGCCAAAAGCAT	0.483000													17	131					5.35267e-07	5.77875e-07	0.043863	1	0
CNOT4	4850	broad.mit.edu	37	7	135098284	135098284	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:135098284G>A	ENST00000428680.2	-	6	919	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	CNOT4_ENST00000356162.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000541284.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000423368.2_Missense_Mutation_p.H214Y|CNOT4_ENST00000315544.5_Missense_Mutation_p.H214Y|CNOT4_ENST00000361528.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000451834.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000414802.1_Missense_Mutation_p.H214Y	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	214					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCAATTCATGAAGATACATG	0.408000													12	84					0	0	0.013537	0	0
AOX1	316	broad.mit.edu	37	2	201485524	201485524	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:201485524G>C	ENST00000374700.2	+	17	2097	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	619					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTAGTTCAAGAGCTCATGCT	0.423000													9	35					0	0	0.008291	0	0
CSNK1E	1454	broad.mit.edu	37	22	38698935	38698935	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:38698935G>C	ENST00000396832.1	-	4	527	c.267C>G	c.(265-267)ctC>ctG	p.L89L	CSNK1E_ENST00000403904.1_Silent_p.L89L|CSNK1E_ENST00000400206.2_Silent_p.L89L|CSNK1E_ENST00000359867.3_Silent_p.L89L|CSNK1E_ENST00000413574.2_Silent_p.L89L|CSNK1E_ENST00000405675.3_Silent_p.L89L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	89	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACAGGTCCTCGAGGCTAGGCC	0.622000													16	89					0	0	0.038395	0	0
EPS8	2059	broad.mit.edu	37	12	15784565	15784565	+	Missense_Mutation	SNP	C	C	T	rs145919374		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:15784565C>T	ENST00000281172.5	-	18	2291	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	EPS8_ENST00000543612.1_Missense_Mutation_p.D619N|EPS8_ENST00000542903.1_Missense_Mutation_p.D359N|EPS8_ENST00000543523.1_Missense_Mutation_p.D619N|EPS8_ENST00000540613.1_Missense_Mutation_p.D359N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	619	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAGTATCAGCTGGTCTT	0.438000													7	67					0	0	0.038147	0	0
GP5	2814	broad.mit.edu	37	3	194118459	194118459	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:194118459G>T	ENST00000401815.1	-	1	624	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	GP5_ENST00000323007.3_Missense_Mutation_p.L185M			P40197	GPV_HUMAN	glycoprotein V (platelet)	185					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCCTTGGGCAGGTGGGTCAGG	0.542000													19	83					9.7654e-05	0.00010337	0.043863	1	0
USP31	57478	broad.mit.edu	37	16	23116891	23116891	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:23116891G>A	ENST00000219689.7	-	5	959	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	320					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)		CAGTGACATAGAGAGGCCTGT	0.418000													11	52					0	0	0.013537	0	0
NELFA	7469	broad.mit.edu	37	4	1985419	1985419	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985419C>G	ENST00000382882.3	-	10	2456	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	NELFA_ENST00000542778.1_Missense_Mutation_p.E301Q|NELFA_ENST00000411638.1_Missense_Mutation_p.E436Q	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		AACATCTGCTCTCTCTACAGC	0.667000													8	47					0	0	0.047766	0	0
FZD6	8323	broad.mit.edu	37	8	104336827	104336827	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:104336827C>G	ENST00000358755.4	+	4	810	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.L133V|FZD6_ENST00000522566.1_Missense_Mutation_p.L165V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	165					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCCAAGGCATCTTAAGACTTC	0.428000													22	139					0	0	0.055883	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:202131505C>T	ENST00000358485.4	+	2	669	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CASP8_ENST00000432109.2_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F|CASP8_ENST00000392258.3_Missense_Mutation_p.S99F|CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	99	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493000										HNSCC(4;0.00038)			5	42					0	0	0.014758	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519205	50519205	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:50519205C>T	ENST00000267842.5	+	7	1519	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC27A2_ENST00000380902.4_Silent_p.I376I|SLC27A2_ENST00000544960.1_Silent_p.I194I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	429					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358000													5	43					0	0	0.021553	0	0
ZNF697	90874	broad.mit.edu	37	1	120168657	120168657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:120168657C>G	ENST00000421812.2	-	2	186	c.67G>C	c.(67-69)Gat>Cat	p.D23H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCCTCAAAATCAGAACCCATC	0.498000													23	209					0	0	0.034045	0	0
NMUR1	10316	broad.mit.edu	37	2	232392867	232392867	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:232392867C>T	ENST00000305141.4	-	2	998	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652000													11	74					0	0	0.010729	0	0
LPO	4025	broad.mit.edu	37	17	56345268	56345268	+	Silent	SNP	C	C	T	rs3744104		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56345268C>T	ENST00000262290.4	+	13	2368	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	LPO_ENST00000421678.2_Silent_p.F601F|LPO_ENST00000582328.1_Silent_p.F601F|LPO_ENST00000543544.1_Silent_p.F625F	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	684					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGACCCATTCTGGGCCAACA	0.572000													18	104					0	0	0.055883	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500096	48500096	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:48500096C>T	ENST00000396577.3	+	2	395	c.180C>T	c.(178-180)atC>atT	p.I60I	SLC12A1_ENST00000558405.1_Silent_p.I60I|SLC12A1_ENST00000380993.3_Silent_p.I60I|SLC12A1_ENST00000561031.1_Silent_p.I60I|SLC12A1_ENST00000330289.6_Silent_p.I60I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	60					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GACTCAGAATCAGCTTTAGGC	0.438000													9	62					0	0	0.047766	0	0
GNPTAB	79158	broad.mit.edu	37	12	102153834	102153834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:102153834G>A	ENST00000299314.7	-	16	3485	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1075					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.Q1075*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TAGGATTCCTGAGTTGGTGGA	0.368000													13	89					0	0	0.024245	0	0
ADAM22	53616	broad.mit.edu	37	7	87782587	87782587	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87782587C>T	ENST00000398204.4	+	21	2056	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M	ADAM22_ENST00000398209.3_Missense_Mutation_p.T578M|ADAM22_ENST00000315984.7_Missense_Mutation_p.T578M|ADAM22_ENST00000398201.4_Missense_Mutation_p.T578M|ADAM22_ENST00000265727.7_Missense_Mutation_p.T578M	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	578	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGAAGGGACGGAGAAGGGT	0.433000													6	46					0	0	0.038147	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178563011	178563011	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178563011T>C	ENST00000251582.7	-	13	2085	c.1984A>G	c.(1984-1986)Agg>Ggg	p.R662G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	662	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGTCTCCCTGGACTCGCAG	0.632000													5	144					0	0	0.014758	0	0
ZNF208	7757	broad.mit.edu	37	19	22154039	22154039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:22154039G>C	ENST00000397126.4	-	4	3945	c.3797C>G	c.(3796-3798)tCa>tGa	p.S1266*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTGAAGACTGATAACCAGCT	0.388000													6	56					0	0	0.021553	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	25					0	0	0.014758	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	53					0	0	0.038147	0	0
STUB1	10273	broad.mit.edu	37	16	731286	731286	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:731286C>T	ENST00000565677.1	+	2	685	c.78C>T	c.(76-78)ttC>ttT	p.F26F	STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Silent_p.F98F|STUB1_ENST00000564370.1_Silent_p.F26F			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	98					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				AGGCGCACTTCTTCCTGGGGC	0.652000													3	27					0	0	0.009096	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249416	3249416	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:3249416C>T	ENST00000389832.5	-	2	920	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R204Q|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	204						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGGGCCTCGCTCCACCCG	0.682000													3	8					0	0	0.004672	0	0
EP300	2033	broad.mit.edu	37	22	41556666	41556666	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:41556666G>A	ENST00000263253.7	+	20	4830	c.3611G>A	c.(3610-3612)tGt>tAt	p.C1204Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1204					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTGAGAAGTGTTTCAATGAG	0.468000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	85					0	0	0.016522	0	0
ZNF366	167465	broad.mit.edu	37	5	71757020	71757020	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:71757020C>G	ENST00000318442.5	-	2	794	c.304G>C	c.(304-306)Gag>Cag	p.E102Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	102					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)		TTGTTCTCCTCTGAGTGGAGG	0.582000													54	232					0	0	0.048971	0	0
MTX1	4580	broad.mit.edu	37	1	155178627	155178627	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:155178627G>A	ENST00000368376.3	+	1	138	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MTX1_ENST00000316721.4_Missense_Mutation_p.R11H	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	11					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCAGTCCCCGCTCGGGGACG	0.677000													3	20					0	0	0.009096	0	0
SNRNP70	6625	broad.mit.edu	37	19	49610936	49610936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:49610936C>T	ENST00000221448.5	+	9	828	c.632C>T	c.(631-633)tCa>tTa	p.S211L	SNRNP70_ENST00000598441.1_Missense_Mutation_p.S211L	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	211					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ATCCGGCATTCAGGCCGCGAT	0.657000													12	63					0	0	0.016723	0	0
STK38L	23012	broad.mit.edu	37	12	27461352	27461352	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:27461352C>G	ENST00000389032.3	+	4	436	c.267C>G	c.(265-267)gaC>gaG	p.D89E	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	89					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GCTTGGATGACTTTGAGTCTC	0.353000													33	133					0	0	0.021022	0	0
NRXN3	9369	broad.mit.edu	37	14	80158584	80158584	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:80158584G>A	ENST00000428277.2	+	4	1056	c.670G>A	c.(670-672)Gag>Aag	p.E224K	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000557594.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCGGCCTGTAGAGGAGTGGCT	0.338000													6	47					0	0	0.029380	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433878	72433878	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:72433878T>C	ENST00000373517.3	-	1	806	c.451A>G	c.(451-453)Aga>Gga	p.R151G	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9G	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCTGACGTCTTTTTTCCAGT	0.383000													3	205					0	0	0.009096	0	0
DISP2	85455	broad.mit.edu	37	15	40661167	40661167	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:40661167G>A	ENST00000267889.3	+	8	2941	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	952					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TAGCCGTCTAGAGCTGTATAG	0.632000													19	103					0	0	0.049695	0	0
CDCA5	113130	broad.mit.edu	37	11	64846603	64846603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:64846603C>G	ENST00000275517.3	-	6	907	c.735G>C	c.(733-735)gaG>gaC	p.E245D	CDCA5_ENST00000404147.3_Missense_Mutation_p.E300D	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	245					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GATCAAACTGCTCAGCAGCTT	0.552000													4	34					0	0	0.009096	0	0
CACNA1S	779	broad.mit.edu	37	1	201047194	201047194	+	Missense_Mutation	SNP	C	C	T	rs9333651		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:201047194C>T	ENST00000362061.3	-	11	1658	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E478K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	478					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCAGCATCTCAGTGGTGAAG	0.567000													22	100					0	0	0.014323	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254169	161254169	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:161254169G>A	ENST00000504449.1	+	3	353	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGAGGAGGAGATTGACATTG	0.488000													9	93					0	0	0.008291	0	0
ZNF182	7569	broad.mit.edu	37	X	47837082	47837082	+	Missense_Mutation	SNP	C	C	G	rs140603964		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:47837082C>G	ENST00000396965.1	-	7	754	c.404G>C	c.(403-405)cGt>cCt	p.R135P	ZNF182_ENST00000305127.6_Missense_Mutation_p.R135P|ZNF182_ENST00000376943.3_Missense_Mutation_p.R116P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATGACAGTCACGAGCACTCTT	0.378000													14	85					0	0	0.020292	0	0
THEG	51298	broad.mit.edu	37	19	362264	362264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:362264G>A	ENST00000342640.4	-	8	1118	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	THEG_ENST00000346878.2_Missense_Mutation_p.S335F	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	359					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCATAGAGGCGAGGGG	0.602000													24	152					0	0	0.024334	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862566	43862566	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr21:43862566C>G	ENST00000319294.6	+	12	1522	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	UBASH3A_ENST00000398367.1_Silent_p.L459L|UBASH3A_ENST00000291535.6_Silent_p.L459L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	497	Phosphatase-like.					cytosol|nucleus		p.L497L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATCCAGAACTCAAACTGGAGA	0.428000													19	113					0	0	0.049695	0	0
WWP2	11060	broad.mit.edu	37	16	69969816	69969816	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69969816C>T	ENST00000359154.2	+	18	2004	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	WWP2_ENST00000542271.1_Missense_Mutation_p.L519F|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.L196F|WWP2_ENST00000448661.1_Missense_Mutation_p.L635F|WWP2_ENST00000356003.2_Missense_Mutation_p.L635F	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	635	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCGGATGCTCAATAAGAG	0.547000													32	157					0	0	0.041601	0	0
TP53	7157	broad.mit.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7576927C>G	ENST00000420246.2	-	9	1052		c.e9-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGGCAGTGCTAGGAAAGAG	0.493000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	73					0	0	0.028581	0	0
DGCR6L	85359	broad.mit.edu	37	22	20307265	20307265	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:20307265G>C	ENST00000405465.3	-	2	175	c.155C>G	c.(154-156)tCg>tGg	p.S52W	DGCR6L_ENST00000248879.3_Silent_p.L56L			Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	52						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CGGTGCCGTCGAGAAGCGCCA	0.652000													6	22					0	0	0.038147	0	0
BACH2	60468	broad.mit.edu	37	6	90660199	90660199	+	Silent	SNP	G	G	C	rs142894061	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:90660199G>C	ENST00000257749.4	-	7	2333	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.L542L|BACH2_ENST00000343122.3_Silent_p.L542L|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	542						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAACTCACAGAGAGGGAGGC	0.607000													26	55					0	0	0.021523	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774833	98774833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:98774833G>C	ENST00000407474.3	+	4	1457	c.944G>C	c.(943-945)aGa>aCa	p.R315T				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ACATATAAAAGAAAATCAGTT	0.308000													17	66					0	0	0.028581	0	0
SCLT1	132320	broad.mit.edu	37	4	129857913	129857913	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:129857913C>G	ENST00000281142.5	-	18	2229	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	576						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCCTCAGTTCAACAATGGAA	0.363000													7	35					0	0	0.029380	0	0
ROBO1	6091	broad.mit.edu	37	3	78656171	78656171	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:78656171G>A	ENST00000436010.2	-	27	5336	c.4339C>T	c.(4339-4341)Ccg>Tcg	p.P1447S	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1386S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1486S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1441S|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1486					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAGGTGGCGGCACAGGAGGT	0.423000													4	75					0	0	0.014758	0	0
BICD1	636	broad.mit.edu	37	12	32369283	32369283	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:32369283C>G	ENST00000548411.1	+	2	497	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	BICD1_ENST00000281474.5_Missense_Mutation_p.L106V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	106					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.L106V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCTTACTATCTGGGGAAGAT	0.542000													14	69					0	0	0.024245	0	0
ZNF318	24149	broad.mit.edu	37	6	43323487	43323487	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:43323487G>A	ENST00000361428.2	-	4	1662	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P529S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	529					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAATGTCGGGAAAGCTACGT	0.488000													87	334					0	0	0.048971	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	27					0	0	0.009096	0	0
NPTX1	4884	broad.mit.edu	37	17	78444754	78444754	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:78444754C>T	ENST00000306773.4	-	5	1315	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	386	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCCCGGGGGTCAGCTTGCGGT	0.592000													14	84					0	0	0.024245	0	0
SPAG8	26206	broad.mit.edu	37	9	35810671	35810671	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:35810671C>T	ENST00000340291.2	-	4	1172	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SPAG8_ENST00000484764.1_Missense_Mutation_p.E348K|SPAG8_ENST00000396638.2_Missense_Mutation_p.E350K|SPAG8_ENST00000479751.1_5'UTR	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	350						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCATGGCTTCACGCTTCCCT	0.527000													5	48					0	0	0.029380	0	0
UTRN	7402	broad.mit.edu	37	6	144780337	144780337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:144780337C>T	ENST00000367545.3	+	20	2554	c.2554C>T	c.(2554-2556)Cac>Tac	p.H852Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	852	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGGCCTTCACCCCAAAAT	0.507000													4	54					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	28					0	0	0.004672	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													4	224					0.00909568	0.00948924	0.009096	1	0
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:152383461C>A	ENST00000427231.2	-	148	22118	c.21916G>T	c.(21916-21918)Gcc>Tcc	p.A7306S	NEB_ENST00000172853.10_Missense_Mutation_p.A5605S|NEB_ENST00000604864.1_Missense_Mutation_p.A7306S|NEB_ENST00000603639.1_Missense_Mutation_p.A7306S|NEB_ENST00000397345.3_Missense_Mutation_p.A7306S|NEB_ENST00000409198.1_Missense_Mutation_p.A5605S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463000													4	20					4.096e-09	4.55811e-09	0.021553	1	0
RSF1	51773	broad.mit.edu	37	11	77412091	77412091	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:77412091C>A	ENST00000308488.6	-	6	2485	c.2183G>T	c.(2182-2184)aGg>aTg	p.R728M	RSF1_ENST00000480887.1_Missense_Mutation_p.R476M|RSF1_ENST00000360355.2_Missense_Mutation_p.R697M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	728					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTCTGCCTTTCAGAGGT	0.398000													27	157					7.07758e-08	7.75674e-08	0.024334	1	0
LILRB3	11025	broad.mit.edu	37	19	54724540	54724540	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:54724540G>A	ENST00000391750.1	-	7	1252	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRA6_ENST00000440558.2_Silent_p.Y372Y|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Silent_p.Y372Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.Y372Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567000													20	49					0	0	0.027356	0	0
ACSS1	84532	broad.mit.edu	37	20	24989982	24989982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr20:24989982G>C	ENST00000537502.1	-	11	3096	c.1565C>G	c.(1564-1566)tCa>tGa	p.S522*	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Nonsense_Mutation_p.S605*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.S484*|ACSS1_ENST00000484396.1_5'UTR			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	605					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCACATCTGAGTCACCCGC	0.502000													36	190					0	0	0.030466	0	0
TTN	7273	broad.mit.edu	37	2	179611715	179611715	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611715C>T	ENST00000360870.5	-	46	15634	c.15412G>A	c.(15412-15414)Gaa>Aaa	p.E5138K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1039	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCCCTTTCTATTTTTGAT	0.443000													36	141					0	0	0.025465	0	0
FAM3A	60343	broad.mit.edu	37	X	153735817	153735817	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:153735817G>C	ENST00000434658.2	-	6	808	c.339C>G	c.(337-339)gtC>gtG	p.V113V	FAM3A_ENST00000447601.2_Silent_p.V130V|FAM3A_ENST00000369643.1_Silent_p.V130V|FAM3A_ENST00000369641.3_Silent_p.V137V|FAM3A_ENST00000359889.5_Silent_p.V130V|FAM3A_ENST00000393572.1_Silent_p.V92V	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	130						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGTCGTTGACATCTGGGG	0.582000													7	31					0	0	0.029380	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570373	53570373	+	Silent	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:53570373T>A	ENST00000025008.5	-	15	2539	c.2016A>T	c.(2014-2016)ccA>ccT	p.P672P	RB1CC1_ENST00000539297.1_Silent_p.P672P|RB1CC1_ENST00000435644.2_Silent_p.P672P|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	672					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGTCAGTGGTGGAGGAGTTC	0.443000													10	70					0	0	0.010729	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	60					0	0	0.004672	0	0
ICAM2	3384	broad.mit.edu	37	17	62081150	62081150	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:62081150G>A	ENST00000412356.1	-	5	857	c.503C>T	c.(502-504)cCg>cTg	p.P168L	ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.P168L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P168L|ICAM2_ENST00000578892.1_Missense_Mutation_p.P144L|ICAM2_ENST00000578379.1_Missense_Mutation_p.P67L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P168L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P168L|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	168	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGCCTCCTGCGGAGCAGGGGC	0.627000													16	74					0	0	0.055883	0	0
NCOR1	9611	broad.mit.edu	37	17	16089965	16089965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:16089965C>T	ENST00000268712.3	-	3	402	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E49K|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	49	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACTCACTTCAAGATGAGAG	0.408000													6	80					0	0	0.047766	0	0
GPR39	2863	broad.mit.edu	37	2	133174980	133174980	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:133174980C>T	ENST00000329321.3	+	1	834	c.365C>T	c.(364-366)aCg>aTg	p.T122M		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	122						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACGCTACGCTGCTGCAC	0.572000													17	61					0	0	0.038395	0	0
TG	7038	broad.mit.edu	37	8	133885398	133885398	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:133885398G>C	ENST00000220616.4	+	5	610	c.570G>C	c.(568-570)atG>atC	p.M190I	TG_ENST00000377869.1_Missense_Mutation_p.M190I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	190	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGAGTTTATGCCTGTCCAGT	0.502000													8	55					0	0	0.047766	0	0
SYTL2	54843	broad.mit.edu	37	11	85435915	85435915	+	Missense_Mutation	SNP	C	C	T	rs116798528	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:85435915C>T	ENST00000359152.5	-	1	3156	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	SYTL2_ENST00000525423.1_Missense_Mutation_p.E529K|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E529K|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	449					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCACTGAATTCGAGGAACTCT	0.403000													16	129					0	0	0.033300	0	0
EYA1	2138	broad.mit.edu	37	8	72267089	72267089	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:72267089C>T	ENST00000340726.3	-	3	691	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	EYA1_ENST00000303824.7_Missense_Mutation_p.E18K|EYA1_ENST00000388743.2_Missense_Mutation_p.E18K|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.E18K|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.E18K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	18					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453000													29	188					0	0	0.034045	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587118	111587118	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587118G>A	ENST00000368847.4	+	4	706	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	118					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGGGACAAAGGAGCCCCACAT	0.433000													27	70					0	0	0.015359	0	0
CREBRF	153222	broad.mit.edu	37	5	172550143	172550143	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:172550143C>T	ENST00000540014.1	+	9	2067	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	CREBRF_ENST00000296953.2_Missense_Mutation_p.P581L			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	581							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GTACAGAATCCAAGAGATGAG	0.363000													14	103					0	0	0.016723	0	0
CAPN2	824	broad.mit.edu	37	1	223957578	223957578	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:223957578C>G	ENST00000295006.5	+	17	2100	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.F519L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	597	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGAAGGAGTTCTACATTCTCT	0.478000													2	5					0	0	0.004672	0	0
AMER1	139285	broad.mit.edu	37	X	63412536	63412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:63412536C>A	ENST00000330258.3	-	2	903	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	AMER1_ENST00000374869.3_Missense_Mutation_p.A211S|AMER1_ENST00000403336.1_Missense_Mutation_p.A211S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ACCTGAGGGGCTGAGCTCACG	0.597000													13	89					1.49906e-05	1.59459e-05	0.020292	1	0
CWC27	10283	broad.mit.edu	37	5	64267529	64267529	+	Splice_Site	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:64267529G>C	ENST00000381070.3	+	12	1259		c.e12-1		CWC27_ENST00000545000.1_Splice_Site	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CTATTCTTTAGAGGAAGAAGC	0.418000													7	92					0	0	0.038147	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278194	7278194	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:7278194G>C	ENST00000436587.2	+	3	752	c.529G>C	c.(529-531)Gac>Cac	p.D177H	C1GALT1_ENST00000223122.2_Missense_Mutation_p.D177H|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D177H	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	177					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGTCATACTAGACAATTTGAG	0.368000													8	69					0	0	0.047766	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318700	79318700	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:79318700G>A	ENST00000428286.1	-	9	7952	c.6752C>T	c.(6751-6753)tCt>tTt	p.S2251F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2610F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2610					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCTCTGCAGAGAGACCTTT	0.453000													13	90					0	0	0.013537	0	0
NELFA	7469	broad.mit.edu	37	4	1985396	1985396	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985396C>G	ENST00000382882.3	-	10	2479	c.1362G>C	c.(1360-1362)gaG>gaC	p.E454D	NELFA_ENST00000542778.1_Missense_Mutation_p.E308D|NELFA_ENST00000411638.1_Missense_Mutation_p.E443D	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		TCTTGAACATCTCCTGGGCAG	0.657000													12	61					0	0	0.016723	0	0
ZNF221	7638	broad.mit.edu	37	19	44470712	44470712	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:44470712T>A	ENST00000251269.5	+	6	1386	c.1058T>A	c.(1057-1059)cTt>cAt	p.L353H	ZNF221_ENST00000587682.1_Missense_Mutation_p.L353H|ZNF221_ENST00000592350.1_Missense_Mutation_p.L353H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGATCAGCACTTAATAGTCAT	0.403000													18	121					0	0	0.043863	0	0
ZNF354A	6940	broad.mit.edu	37	5	178152447	178152447	+	Silent	SNP	C	C	T	rs146853988	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178152447C>T	ENST00000335815.2	-	4	383	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	62	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACAGGGAGATCACTTTTGGTT	0.468000													15	113					0	0	0.043863	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740385	50740385	+	Silent	SNP	G	G	A	rs149503577		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:50740385G>A	ENST00000008391.3	+	8	1395	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	389	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTGGGACTCCGGCAATATGTG	0.428000													12	69					0	0	0.013537	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926332	8926332	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:8926332C>G	ENST00000357529.3	+	7	2375	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.F371L|RIMKLB_ENST00000538135.1_Missense_Mutation_p.F371L	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	371					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGGCCTGTTCAACATGAACC	0.483000													18	128					0	0	0.049695	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647000													5	236					0	0	0.029380	0	0
UBR1	197131	broad.mit.edu	37	15	43351984	43351984	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43351984C>G	ENST00000290650.4	-	8	979	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	UBR1_ENST00000382177.2_Missense_Mutation_p.E301Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	301					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTAATACTTCTACATGAAGT	0.353000													8	49					0	0	0.038147	0	0
CCDC135	84229	broad.mit.edu	37	16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	rs116219187	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:57741450G>A	ENST00000360716.3	+	8	1158	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGAAGCGCGAGGTGCCTGA	0.587000													10	52					0	0	0.010729	0	0
CHST8	64377	broad.mit.edu	37	19	34263009	34263009	+	Silent	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:34263009C>A	ENST00000262622.3	+	4	1074	c.316C>A	c.(316-318)Cgg>Agg	p.R106R	CHST8_ENST00000438847.2_Silent_p.R106R|CHST8_ENST00000434302.1_Silent_p.R106R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	106					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AACCCGTCTGCGGCTCCGCCA	0.697000													6	30					0.0293803	0.0305049	0.029380	1	0
CLEC3B	7123	broad.mit.edu	37	3	45077267	45077267	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:45077267T>C	ENST00000296130.4	+	3	640	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	CLEC3B_ENST00000428034.1_Missense_Mutation_p.Y112H|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	154	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGCATCGCCTACAAGAACTG	0.667000													3	73					0	0	0.004672	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA9_ENST00000532602.1_Intron|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|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662000													24	142					0	0	0.024334	0	0
SOCS5	9655	broad.mit.edu	37	2	46986940	46986940	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:46986940G>C	ENST00000306503.5	+	2	1443	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SOCS5_ENST00000394861.2_Missense_Mutation_p.R424T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	424	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTACAACAGATCCCTGCAT	0.517000													16	94					0	0	0.038395	0	0
ASB8	140461	broad.mit.edu	37	12	48545077	48545077	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:48545077C>G	ENST00000317697.3	-	3	310	c.141G>C	c.(139-141)gtG>gtC	p.V47V	ASB8_ENST00000535055.1_Silent_p.V47V|ASB8_ENST00000540782.1_Silent_p.V47V|ASB8_ENST00000539528.1_Silent_p.V47V|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000536071.1_Silent_p.V47V|ASB8_ENST00000535988.1_Silent_p.V47V|ASB8_ENST00000536953.1_Silent_p.V47V|ASB8_ENST00000536549.1_Silent_p.V47V	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	47					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GAGTGCAGTTCACATCTGCTC	0.522000													12	46					0	0	0.010729	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86346765	86346765	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:86346765C>G	ENST00000355238.6	-	6	792	c.586G>C	c.(586-588)Gat>Cat	p.D196H	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.D196H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	196	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTGAGTGGATCCATCATTAGA	0.403000													9	69					0	0	0.013537	0	0
TARBP1	6894	broad.mit.edu	37	1	234529206	234529206	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:234529206C>A	ENST00000040877.1	-	28	4461	c.4462G>T	c.(4462-4464)Ggg>Tgg	p.G1488W	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1488					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTGAAGCCCCAAATACCTCA	0.498000													14	74					4.36969e-10	4.93866e-10	0.016723	1	0
ACPP	55	broad.mit.edu	37	3	132047150	132047150	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:132047150C>A	ENST00000336375.5	+	2	250	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	ACPP_ENST00000475741.1_Missense_Mutation_p.P54T|ACPP_ENST00000351273.7_Missense_Mutation_p.P54T|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	54						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGACACCTTTCCCACTGACCC	0.473000													7	80					1.26484e-09	1.4148e-09	0.038147	1	0
CYP21A1P	1590	broad.mit.edu	37	6	31975160	31975160	+	RNA	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31975160G>A	ENST00000342991.6	+	0	1283					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTTGCACATGGCTGCAGTGGA	0.607000													35	187					0	0	0.021022	0	0
MUC17	140453	broad.mit.edu	37	7	100676143	100676143	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:100676143G>A	ENST00000306151.4	+	3	1510	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	482	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAACTCAGGTGACCACTT	0.473000													60	407					0	0	0.048971	0	0
DCAF16	54876	broad.mit.edu	37	4	17805653	17805653	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:17805653C>T	ENST00000382247.1	-	3	1172	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	DCAF16_ENST00000536863.1_Missense_Mutation_p.E38K	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	38						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GAGTCCTCTTCTTCAGAGGAA	0.423000													13	103					0	0	0.020292	0	0
ROBO2	6092	broad.mit.edu	37	3	77666886	77666886	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:77666886G>C	ENST00000461745.1	+	22	4416	c.3516G>C	c.(3514-3516)ttG>ttC	p.L1172F	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.L1172F|ROBO2_ENST00000487694.3_Missense_Mutation_p.L1188F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1172					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATGAGTTGACAAGAGCCT	0.433000													10	65					0	0	0.006214	0	0
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567000													5	192					0	0	0.029380	0	0
IDO1	3620	broad.mit.edu	37	8	39781060	39781060	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:39781060G>C	ENST00000518237.1	+	7	1249	c.610G>C	c.(610-612)Gct>Cct	p.A204P	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.A204P	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	204					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTTGGAAATAGCTTCTTGCTT	0.423000													6	45					0	0	0.047766	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817427	26817427	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:26817427G>A	ENST00000444914.3	+	3	754	c.334G>A	c.(334-336)Gac>Aac	p.D112N	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CACCGTGGGAGACTCCAGGGT	0.587000													23	128					0	0	0.018920	0	0
DPYSL4	10570	broad.mit.edu	37	10	134008424	134008424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:134008424C>T	ENST00000338492.4	+	4	553	c.389C>T	c.(388-390)gCg>gTg	p.A130V	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A53V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	130					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGGACAGCGCGGCCTGCTGC	0.662000													13	81					0	0	0.020292	0	0
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87148696C>T	ENST00000265724.3	-	24	3290	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.383000													10	60					0	0	0.010729	0	0
ZFHX3	463	broad.mit.edu	37	16	72830136	72830136	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:72830136G>A	ENST00000268489.5	-	9	7117	c.6445C>T	c.(6445-6447)Cgc>Tgc	p.R2149C	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1235C	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2149					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCCTGGTGCGAGGCCTCTTG	0.547000													12	64					0	0	0.016723	0	0
TSIX	9383	broad.mit.edu	37	X	73046762	73046762	+	RNA	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:73046762A>T	ENST00000604411.1	+	0	34723				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGCCTTGAGACTTCCATCCA	0.493000													13	104					0	0	0.020292	0	0
RYR1	6261	broad.mit.edu	37	19	38959733	38959733	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:38959733C>G	ENST00000355481.4	+	26	3640	c.3509C>G	c.(3508-3510)tCt>tGt	p.S1170C	RYR1_ENST00000360985.3_Missense_Mutation_p.S1170C|RYR1_ENST00000359596.3_Missense_Mutation_p.S1170C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1170	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTCATGTCTGACTCAGGC	0.567000													10	100					0	0	0.008291	0	0
DAAM1	23002	broad.mit.edu	37	14	59820601	59820601	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:59820601C>T	ENST00000395125.1	+	19	2328	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.H759Y|DAAM1_ENST00000351081.1_Missense_Mutation_p.H769Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	769	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAATTAATCACTATCAGCA	0.378000													3	25					0	0	0.009096	0	0
DMD	1756	broad.mit.edu	37	X	31986458	31986458	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:31986458C>G	ENST00000357033.4	-	45	6818	c.6612G>C	c.(6610-6612)aaG>aaC	p.K2204N	DMD_ENST00000378677.2_Missense_Mutation_p.K2200N|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2204					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCCCTACCTCTTTTTTCTGT	0.398000													17	180					0	0	0.043863	0	0
E2F5	1875	broad.mit.edu	37	8	86114424	86114424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:86114424G>A	ENST00000418930.2	+	2	473	c.277G>A	c.(277-279)Gat>Aat	p.D93N	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.D93N|E2F5_ENST00000416274.2_Missense_Mutation_p.D93N|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000521429.1_5'UTR			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	93	Leucine-zipper.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGAATTTATGATATCACCAA	0.383000													6	35					0	0	0.021553	0	0
TROAP	10024	broad.mit.edu	37	12	49724994	49724994	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:49724994C>G	ENST00000551245.1	+	13	2477	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCATGCCCCTCAGGCCTCAGC	0.577000													4	51					0	0	0.009096	0	0
OBSCN	84033	broad.mit.edu	37	1	228433261	228433261	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:228433261C>G	ENST00000570156.2	+	13	3979	c.3905C>G	c.(3904-3906)tCa>tGa	p.S1302*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	281	Ig-like 13.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCAAAAGTACGC	0.627000													16	102					0	0	0.038395	0	0
USP28	57646	broad.mit.edu	37	11	113670017	113670017	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:113670017C>A	ENST00000003302.4	-	25	3247	c.3179G>T	c.(3178-3180)cGa>cTa	p.R1060L	USP28_ENST00000545540.1_Missense_Mutation_p.R903L|USP28_ENST00000544967.1_Missense_Mutation_p.R736L|USP28_ENST00000260188.5_Missense_Mutation_p.R1028L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1060					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGCTGCAAATCGGCTACATAG	0.483000													27	137					7.38237e-10	8.30038e-10	0.030593	1	0
MMP14	4323	broad.mit.edu	37	14	23313957	23313957	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:23313957C>T	ENST00000311852.6	+	8	1530	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	423	Hemopexin-like 3.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.W421_G425>*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCTGGATGCCCAATGGAAAGA	0.547000													18	137					0	0	0.012319	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376489	75376489	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:75376489G>A	ENST00000555647.1	-	8	1314	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R343W|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R343W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R312W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	343	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTGAGCCCCCGAGGGGGCCCA	0.697000													7	36					0	0	0.029380	0	0
PLOD1	5351	broad.mit.edu	37	1	12012751	12012751	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:12012751C>G	ENST00000196061.4	+	5	565	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.Q227E	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	180					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGACAGCGATCAGCTGTTTTA	0.617000													9	69					0	0	0.016723	0	0
RGS7	6000	broad.mit.edu	37	1	241261998	241261998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:241261998C>A	ENST00000366565.1	-	3	524	c.143G>T	c.(142-144)aGc>aTc	p.S48I	RGS7_ENST00000366563.1_Missense_Mutation_p.S48I|RGS7_ENST00000366562.4_Missense_Mutation_p.S48I|RGS7_ENST00000366564.1_Missense_Mutation_p.S48I|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.S48I|RGS7_ENST00000331110.7_Missense_Mutation_p.S22I|RGS7_ENST00000407727.1_Missense_Mutation_p.S48I|RGS7_ENST00000401882.1_Missense_Mutation_p.S48I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	48	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGAAAGAAAGCTTTTGACCGT	0.363000													10	51					1.08611e-07	1.18435e-07	0.010729	1	0
FAM179A	165186	broad.mit.edu	37	2	29240094	29240094	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:29240094G>A	ENST00000379558.4	+	9	1470	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.R373R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	373							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCTGCTTCGGAGGCTGGAGG	0.577000													14	76					0	0	0.020292	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871316	20871316	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:20871316G>C	ENST00000324344.3	-	3	1092	c.807C>G	c.(805-807)ctC>ctG	p.L269L	DCUN1D3_ENST00000563934.1_Silent_p.L269L|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	269	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGGTGTCAAAGAGACTTGGCC	0.552000													7	39					0	0	0.029380	0	0
DNAH11	8701	broad.mit.edu	37	7	21939660	21939660	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:21939660G>A	ENST00000328843.6	+	82	13277	c.13246G>A	c.(13246-13248)Gat>Aat	p.D4416N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D4409N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4416					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						CTTGACTGCTGATGTTACCAA	0.448000									Kartagener syndrome				13	48					0	0	0.020292	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778658	111778658	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:111778658C>T	ENST00000445067.2	+	9	1389	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CHI3L2_ENST00000524472.1_Silent_p.F127F|CHI3L2_ENST00000466741.1_Silent_p.F127F|CHI3L2_ENST00000369748.4_Silent_p.F206F|CHI3L2_ENST00000369744.2_Silent_p.F196F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	206					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATCTGGATTTCATCAACCTCC	0.473000													49	269					0	0	0.048971	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427536	148427536	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148427536G>A	ENST00000515425.1	-	3	269	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SH3TC2_ENST00000512049.1_Silent_p.F56F|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	56							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTACACAGAAGGAGAGTG	0.502000													20	171					0	0	0.016522	0	0
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													2	4	---	---	---	---					
KIAA1919	91749	broad.mit.edu	37	6	111587361	111587361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587361delT	ENST00000368847.4	+	4	949	c.596delT	c.(595-597)atfs	p.I199fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	199					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTTCTGTCATTTTTTTTTGT	0.368													8	71	---	---	---	---					
HAS2	3037	broad.mit.edu	37	8	122626357	122626358	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:122626357_122626358insAA	ENST00000303924.4	-	4	2187_2188	c.1650_1651insTT	c.(1648-1653)ctatgtfs	p.C551fs		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	551						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCATACATCAAGCACCATGT	0.446													30	98	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:104879687delT	ENST00000393141.2	-	2	98	c.67delA	c.(67-69)ggfs	p.R24fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000444749.2_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388													7	85	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:103695960delG	ENST00000548048.1	-	9	1304	c.808delC	c.(808-810)gcfs	p.R270fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													8	173	---	---	---	---					
LUC7L3	51747	broad.mit.edu	37	17	48827881	48827882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:48827881_48827882insA	ENST00000505658.1	+	10	1347_1348	c.1158_1159insA	c.(1156-1161)gaaaaafs	p.EK386fs	LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.EK310fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	386	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	p.D386fs*2(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTAG	0.356													11	145	---	---	---	---					
