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
CPSF2	53981	broad.mit.edu	37	14	92597374	92597374	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr14:92597374G>A	ENST00000298875.4	+	3	331	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	16					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTCCAAGAAGAATCTGCCCT	0.373000													17	66					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804719	54804719	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:54804719C>G	ENST00000306858.7	+	5	1066	c.950C>G	c.(949-951)tCc>tGc	p.S317C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	317										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCTGTTTCCAGCCAGAGA	0.393000													10	69					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72412726	72412726	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:72412726C>T	ENST00000359373.5	-	16	3121	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	ARAP1_ENST00000393605.3_Missense_Mutation_p.G517D|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.G451D|ARAP1_ENST00000334211.8_Missense_Mutation_p.G512D|ARAP1_ENST00000393609.3_Missense_Mutation_p.G757D|ARAP1_ENST00000455638.2_Missense_Mutation_p.G757D|ARAP1_ENST00000426523.1_Missense_Mutation_p.G512D			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	757	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TAGCAGCTTGCCGGCAGAGGC	0.632000													6	330					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36722649	36722649	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr22:36722649C>T	ENST00000216181.5	-	5	806	c.576G>A	c.(574-576)gcG>gcA	p.A192A	MYH9_ENST00000401701.1_Silent_p.A192A	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	192	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACGCCACGTACGCCAGATACT	0.582000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				30	146					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91019984	91019984	+	Silent	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:91019984C>G	ENST00000268182.5	+	24	2998	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	IQGAP1_ENST00000560738.1_Silent_p.L386L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	958	C1.				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)			AGGGAGGTCTCAAGGCTTTGA	0.358000													40	156					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968417	106968417	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:106968417A>G	ENST00000369066.3	+	2	2597	c.2110A>G	c.(2110-2112)Ata>Gta	p.I704V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	704							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTGAAATTATAAAACAGAT	0.423000													23	80					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112623222	112623222	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:112623222C>A	ENST00000550722.1	-	61	9505	c.9110G>T	c.(9109-9111)cGc>cTc	p.R3037L	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2761L|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3011L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGCACCGTGCGCAGGAGCTC	0.597000													3	24					0.00024832	0.000252529	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89448519	89448519	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:89448519A>T	ENST00000336596.2	+	7	1708	c.1483A>T	c.(1483-1485)Acc>Tcc	p.T495S	EPHA3_ENST00000494014.1_Missense_Mutation_p.T495S|EPHA3_ENST00000452448.2_Missense_Mutation_p.T495S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	495	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CACAAATGTTACCATCAGTAG	0.413000										TSP Lung(6;0.00050)			26	48					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166196	159166196	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:159166196G>A	ENST00000368125.4	+	6	891	c.734G>A	c.(733-735)cGt>cAt	p.R245H	CADM3_ENST00000368124.4_Missense_Mutation_p.R279H|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	245	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCCCATCCTCGTGAGGGCCAG	0.517000											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602634	107602634	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr9:107602634T>G	ENST00000374736.3	-	9	1374	c.980A>C	c.(979-981)gAc>gCc	p.D327A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	327					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAGTTGTTGTCCTCATACCA	0.532000													28	42					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807820	1807820	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr4:1807820G>A	ENST00000340107.4	+	14	2141	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	FGFR3_ENST00000260795.2_Missense_Mutation_p.E627K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E515K|FGFR3_ENST00000481110.2_Missense_Mutation_p.E628K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E515K|FGFR3_ENST00000440486.2_Missense_Mutation_p.E627K	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	627	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.E627K(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCTGGTGACCGAGGACAACGT	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				8	22					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007147	56007147	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:56007147C>T	ENST00000429591.2	+	4	779	c.741C>T	c.(739-741)ccC>ccT	p.P247P	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGAGAAACCCAGTGAGTGTG	0.408000													6	42					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41854245	41854245	+	Silent	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:41854245C>A	ENST00000221930.5	-	2	1337	c.471G>T	c.(469-471)ctG>ctT	p.L157L		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	157					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TGAGCCTCAGCAGACGCAGCT	0.547000													27	166					3.1745e-13	3.52722e-13	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97093835	97093835	+	Silent	SNP	A	A	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:97093835A>G	ENST00000524981.3	+	13	1791	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P				Q6ZTY8	CL063_HUMAN		571										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCCTTGTCCAATACCTGCAG	0.343000													18	42					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17277466	17277466	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:17277466G>A	ENST00000375541.5	+	20	2924	c.2855G>A	c.(2854-2856)cGg>cAg	p.R952Q	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	952					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGGCCTGCGGCAGCAAATA	0.602000													3	37					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67787207	67787207	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:67787207C>T	ENST00000539229.1	+	7	617	c.501C>T	c.(499-501)ggC>ggT	p.G167G	ALDH3B1_ENST00000007633.8_Silent_p.G167G|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Silent_p.G167G|ALDH3B1_ENST00000342456.6_Silent_p.G131G	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	168					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	TGGTGCTGGGCGGGCCCCAGG	0.667000													21	122					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322641	31322641	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:31322641C>T	ENST00000580599.1	+	3	451	c.42C>T	c.(40-42)ccC>ccT	p.P14P	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.P83P|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	83					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GCCTGCTACCCTCCAGTGAGG	0.612000													15	52					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45918139	45918139	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:45918139C>G	ENST00000300853.3	-	7	1273	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	ERCC1_ENST00000423698.2_Missense_Mutation_p.E156Q|ERCC1_ENST00000340192.7_Missense_Mutation_p.E228Q|ERCC1_ENST00000013807.5_Missense_Mutation_p.E228Q|ERCC1_ENST00000589165.1_Missense_Mutation_p.E228Q|ERCC1_ENST00000591636.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	228					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AAGTCCTGCTCTAGCTTCTCC	0.602000								Nucleotide excision repair (NER)					13	79					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76497362	76497362	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:76497362C>T	ENST00000389840.5	-	35	5469	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1791Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAAGCAGTGTCGCTTCTCTTC	0.587000													13	65					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187078	152187078	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:152187078G>A	ENST00000368801.2	-	3	7102	c.7027C>T	c.(7027-7029)Cac>Tac	p.H2343Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2343					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCGTGGTGACCAAATCCA	0.577000													42	2021					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1276063	1276063	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:1276063C>A	ENST00000447027.1	+	35	15684	c.15626C>A	c.(15625-15627)gCc>gAc	p.A5209D	MUC5B_ENST00000529681.1_Missense_Mutation_p.A5206D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5206	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCTTCCAGGCCCGGCTGCCC	0.657000													16	46					1.67942e-08	1.79937e-08	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94841555	94841555	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:94841555A>C	ENST00000357742.4	+	1	61	c.61A>C	c.(61-63)Atc>Ctc	p.I21L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.I21L|MCTP2_ENST00000451018.3_Missense_Mutation_p.I21L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	21					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCATTGTTGATCAACTTGAG	0.502000													20	73					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043645	117043645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:117043645G>A	ENST00000371876.1	-	4	3253	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	KLHL13_ENST00000371878.1_Nonsense_Mutation_p.Q278*|KLHL13_ENST00000545703.1_Nonsense_Mutation_p.Q287*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.Q332*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.Q313*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.Q278*|KLHL13_ENST00000262820.3_Nonsense_Mutation_p.Q329*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.Q313*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.Q278*			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	329	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGTCTGACTGCATAACTGGC	0.463000													26	51					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942273	11942273	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:11942273C>A	ENST00000304060.5	+	4	446	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GACTGAACTTCCAGGAGAAGA	0.383000													39	195					1.52319e-26	1.79198e-26	1	1	0
C10orf90	118611	broad.mit.edu	37	10	128150049	128150049	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:128150049C>T	ENST00000284694.7	-	5	1760	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H	C10orf90_ENST00000454341.1_Missense_Mutation_p.R450H|C10orf90_ENST00000544758.1_Missense_Mutation_p.R644H|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R500H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	547										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGCTCCATCGCGGGGTGCTGG	0.547000													6	39					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103340143	103340143	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:103340143C>T	ENST00000370162.3	-	8	1719	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	POLL_ENST00000370158.3_Missense_Mutation_p.G134R|POLL_ENST00000370168.3_Missense_Mutation_p.G82R|POLL_ENST00000370169.1_Missense_Mutation_p.G409R|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.G321R|POLL_ENST00000299206.4_Missense_Mutation_p.G409R|POLL_ENST00000339310.3_Missense_Mutation_p.G132R|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.G146R	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	409					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CACAGCAGCCCAGAGTTAAAG	0.622000								DNA polymerases (catalytic subunits)					18	95					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74473351	74473351	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:74473351C>G	ENST00000437994.2	+	10	1481	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	CD109_ENST00000287097.5_Missense_Mutation_p.I350M|CD109_ENST00000422508.2_Missense_Mutation_p.I273M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	350						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATTACATCATTGAGTTTT	0.338000													10	46					0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26691486	26691486	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:26691486C>T	ENST00000536498.1	-	10	1849	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	SARM1_ENST00000379061.4_3'UTR|SEBOX_ENST00000431468.1_Missense_Mutation_p.R152Q|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000438614.1_Missense_Mutation_p.R151Q|CTB-96E2.3_ENST00000591482.1_RNA			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	152					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGAGCTATGTCGACACACTGA	0.627000													4	15					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836510	4836510	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:4836510C>T	ENST00000329125.5	+	2	686	c.611C>T	c.(610-612)cCa>cTa	p.P204L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	204										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TATACAATACCAAAGGGCTTT	0.527000													14	44					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250701	190250701	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:190250701G>T	ENST00000367462.3	-	3	647	c.416C>A	c.(415-417)gCt>gAt	p.A139D	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		139						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCCAGAGTAGCAGATAGCAA	0.413000													17	79					1.01871e-10	1.12152e-10	1	1	0
HLTF	6596	broad.mit.edu	37	3	148760013	148760013	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:148760013G>A	ENST00000310053.5	-	19	2330	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	HLTF_ENST00000392912.2_Missense_Mutation_p.R713W|HLTF_ENST00000465259.1_Missense_Mutation_p.R712W|HLTF_ENST00000494055.1_Missense_Mutation_p.R713W	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	713					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAAATTTGCCGCAGTCTAAGC	0.388000													26	47					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255387	110255387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:110255387C>A	ENST00000239690.4	-	10	1977	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E506*	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	535										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGCCTGCCTTCCTTTCTGTTG	0.443000													48	321					1.19451e-25	1.39167e-25	1	1	0
PLD5	200150	broad.mit.edu	37	1	242277314	242277314	+	Silent	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:242277314G>C	ENST00000442594.2	-	8	1181	c.672C>G	c.(670-672)ctC>ctG	p.L224L	PLD5_ENST00000427495.1_Silent_p.L254L|PLD5_ENST00000536534.1_Silent_p.L316L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	316	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TAGGGCAAAAGAGTTTTGGAG	0.403000													8	48					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754958	29754958	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:29754958G>A	ENST00000389048.3	-	4	1883	c.977C>T	c.(976-978)tCa>tTa	p.S326L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	326	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGTCAGCTGAGGTGTTGAG	0.552000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	44					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082795	125082795	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:125082795G>C	ENST00000522917.1	+	30	4128	c.3922G>C	c.(3922-3924)Gat>Cat	p.D1308H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1308H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1308						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTCTACGGAAGATGACCATGG	0.403000													23	145					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100349945	100349945	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:100349945C>T	ENST00000294724.4	+	19	2962	c.2484C>T	c.(2482-2484)ccC>ccT	p.P828P	AGL_ENST00000361915.3_Silent_p.P828P|AGL_ENST00000370163.3_Silent_p.P828P|AGL_ENST00000361522.4_Silent_p.P811P|AGL_ENST00000361302.3_Silent_p.P812P|AGL_ENST00000370165.3_Silent_p.P828P|AGL_ENST00000370161.2_Silent_p.P812P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	828					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAAAAGGGCCCAATGAATATA	0.289000													7	31					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635305	100635305	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr13:100635305C>T	ENST00000376335.3	+	1	1280	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	329					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCACACAGGCGAGAAACCCT	0.607000													54	82					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426522	125426522	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:125426522G>A	ENST00000284674.1	+	1	652	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	200					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AAGGTGGCCCGCTTCCATTGC	0.627000													3	18					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946238	71946238	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:71946238G>A	ENST00000298229.2	+	22	2698	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	INPPL1_ENST00000541756.1_Missense_Mutation_p.E590K|INPPL1_ENST00000538751.1_Missense_Mutation_p.E590K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	832					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGATGGCTATGAATCCTATGG	0.547000													20	47					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840722	36840722	+	RNA	SNP	A	A	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr14:36840722A>T	ENST00000557188.1	+	0	353																											ATCTCCTCCGAGACGTTGATA	0.488000													10	37					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74743315	74743315	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:74743315G>C	ENST00000233638.7	+	3	1177	c.854G>C	c.(853-855)tGa>tCa	p.*285S		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						TCGGTGGTGTGAGCGACGCCC	0.706000													4	25					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833427	125833427	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:125833427G>C	ENST00000393434.2	-	18	2404	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D584E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D685E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D695E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	685	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGAGGTCACAGTCAGCAAAGA	0.612000													35	81					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534482	158534482	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:158534482G>C	ENST00000251527.5	-	17	2046	c.1981C>G	c.(1981-1983)Cat>Gat	p.H661D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H96D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	689						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCAGACATATGAGATTTGATG	0.537000													21	50					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539651	187539651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr4:187539651C>A	ENST00000441802.2	-	10	8298	c.8089G>T	c.(8089-8091)Gaa>Taa	p.E2697*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2697	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E2700*(2)|p.E2697*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTGCATTTCCGGTGGAAGG	0.393000										HNSCC(5;0.00058)			30	114					1.75199e-13	1.96484e-13	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139407990	139407990	+	Splice_Site	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr9:139407990C>T	ENST00000277541.6	-	14	2283		c.e14-1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACTTGTACCTGCAAGGGGG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			15	34					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153496	101153496	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:101153496G>C	ENST00000428847.2	-	2	1302	c.986C>G	c.(985-987)tCa>tGa	p.S329*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	329					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCAGGCGTTGAAATACTGCC	0.408000													13	86					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854831	21854831	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:21854831C>T	ENST00000382254.1	-	7	1681	c.595G>A	c.(595-597)Gtt>Att	p.V199I	CDH12_ENST00000504376.2_Missense_Mutation_p.V199I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	199	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGCTGTAAACGACTCTGGCA	0.403000										HNSCC(59;0.17)			12	53					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671921	144671921	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:144671921C>T	ENST00000532741.1	-	1	709	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.V111M|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.V111M|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCAGCCACACGCGTTCGGCC	0.677000													10	38					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66660171	66660171	+	Silent	SNP	C	C	T	rs140763959	byFrequency	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:66660171C>T	ENST00000359626.5	+	15	1988	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	608					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTACCTACTGCGGAGAAAGTT	0.493000													20	60					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890716	30890716	+	Silent	SNP	T	T	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:30890716T>C	ENST00000321897.5	+	22	2780	c.2148T>C	c.(2146-2148)gaT>gaC	p.D716D	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.D576D|VARS2_ENST00000541562.1_Silent_p.D746D|VARS2_ENST00000416670.2_Silent_p.D716D			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	716					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGGGACAGATGCCCTGAGAT	0.612000													19	91					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215583	140215583	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:140215583G>A	ENST00000525929.1	+	1	1615	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D539N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGATGCGGGCGT	0.682000													36	185					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37416118	37416118	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr21:37416118G>T	ENST00000399215.1	-	6	2235	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	SETD4_ENST00000399212.1_Missense_Mutation_p.S264Y|SETD4_ENST00000399208.2_Missense_Mutation_p.S288Y|SETD4_ENST00000399207.1_Missense_Mutation_p.S288Y|SETD4_ENST00000332131.4_Missense_Mutation_p.S288Y|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.S264Y|SETD4_ENST00000399205.1_Missense_Mutation_p.S264Y|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	288										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ATTATGGACAGAAACAAATCC	0.383000													7	44					0.000157383	0.000161419	1	1	0
HCK	3055	broad.mit.edu	37	20	30662496	30662496	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr20:30662496G>A	ENST00000534862.1	+	6	703	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	HCK_ENST00000538448.1_Missense_Mutation_p.A113T|HCK_ENST00000520553.1_Missense_Mutation_p.A113T|HCK_ENST00000518730.1_Missense_Mutation_p.A112T|HCK_ENST00000375852.2_Missense_Mutation_p.A134T|HCK_ENST00000375862.2_Missense_Mutation_p.A133T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	134	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAACTATGTCGCCCGCGTTGA	0.547000													53	113					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29993035	29993035	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr16:29993035A>G	ENST00000308893.4	+	9	1752	c.709A>G	c.(709-711)Att>Gtt	p.I237V	TAOK2_ENST00000543033.1_Missense_Mutation_p.I237V|TAOK2_ENST00000416441.2_Missense_Mutation_p.I64V|TAOK2_ENST00000279394.3_Missense_Mutation_p.I237V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	237	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTATACCACATTGCACAGAA	0.532000													11	45					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124856697	124856697	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:124856697G>C	ENST00000356219.3	-	21	2833	c.2678C>G	c.(2677-2679)gCa>gGa	p.A893G	NCOR2_ENST00000397355.1_Missense_Mutation_p.A876G|NCOR2_ENST00000429285.2_Missense_Mutation_p.A875G|NCOR2_ENST00000404621.1_Missense_Mutation_p.A875G|NCOR2_ENST00000404121.2_Missense_Mutation_p.A446G|NCOR2_ENST00000405201.1_Missense_Mutation_p.A893G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	893					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTTCTTCTCTGCCTTGAGCGC	0.711000													20	119					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513320	123513320	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:123513320C>T	ENST00000392770.2	-	3	1081	c.279G>A	c.(277-279)caG>caA	p.Q93Q	SCN3B_ENST00000299333.3_Silent_p.Q93Q|SCN3B_ENST00000530277.1_Silent_p.Q93Q	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	93	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGCCATTCCACTGCAGGCGCC	0.572000													15	58					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	190					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580943	140580943	+	Silent	SNP	C	C	T	rs141725405	byFrequency	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:140580943C>T	ENST00000354757.3	+	1	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	PCDHB11_ENST00000536699.1_Silent_p.G167G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.677000													35	134					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208073192	208073192	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:208073192C>A	ENST00000356522.4	-	2	557	c.236G>T	c.(235-237)gGc>gTc	p.G79V	CD34_ENST00000310833.7_Missense_Mutation_p.G79V|CD34_ENST00000537704.1_Missense_Mutation_p.A29S	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	79					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGCCTCATTGCCATGTTGAGA	0.438000													32	74					1.90571e-15	2.15741e-15	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2890969	2890969	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr18:2890969G>C	ENST00000254528.3	+	4	1003	c.844G>C	c.(844-846)Gag>Cag	p.E282Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	282					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGCTGGAAGAGCTGGATGG	0.493000													17	60					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	58					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233261	28233261	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:28233261C>A	ENST00000305242.5	-	12	1725	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.D237Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.D70Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	545							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGTGGAGAATCAAGTATATTC	0.428000													4	34					1.23904e-05	1.30425e-05	1	1	0
ZCWPW1	55063	broad.mit.edu	37	7	100000187	100000187	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:100000187G>A	ENST00000398027.2	-	16	1670	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.P355S|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.P355S|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	475							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTACGAATGGGCAAAATTGGG	0.438000													6	530					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540626	169540626	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:169540626G>A	ENST00000340806.6	+	1	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	306										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCAACTTGCGCTTCCTGGAC	0.577000													8	36					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105903927	105903927	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:105903927C>A	ENST00000222553.3	-	7	1187	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	NAMPT_ENST00000354289.4_Missense_Mutation_p.D294Y	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	294					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTCTTAGATCTTCACCCCAT	0.368000													7	48					8.12818e-05	8.48158e-05	1	1	0
AZGP1	563	broad.mit.edu	37	7	99564900	99564900	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:99564900G>A	ENST00000292401.4	-	4	759	c.623C>T	c.(622-624)tCt>tTt	p.S208F	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	208	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GACCACCACAGAGGGAGGATC	0.577000													9	31					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17026466	17026466	+	RNA	SNP	C	C	T	rs114606754	by1000genomes	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:17026466C>T	ENST00000492551.1	-	0	1219					NR_026567.1																						GCGGGGCTTGCGGCTGGAGTC	0.736000													6	27					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281198	79281198	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:79281198G>A	ENST00000442340.1	+	5	685	c.195G>A	c.(193-195)tcG>tcA	p.S65S	TBX22_ENST00000373291.1_Silent_p.S65S|TBX22_ENST00000373296.3_Silent_p.S185S|TBX22_ENST00000373294.5_Silent_p.S185S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	185					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CACCCTGCTCGGGAGAGACCT	0.493000													8	14					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54534295	54534295	+	Silent	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:54534295G>C	ENST00000566473.2	+	11	1290	c.1290G>C	c.(1288-1290)tcG>tcC	p.S430S	ANKFN1_ENST00000318698.2_Silent_p.S430S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	430										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCCATTCCTCGAACAAGTTTG	0.378000													10	37					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75185035	75185035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:75185035C>T	ENST00000352410.4	+	4	446	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	MPI_ENST00000563786.1_Nonsense_Mutation_p.Q107*|MPI_ENST00000564003.1_Nonsense_Mutation_p.Q77*|MPI_ENST00000563422.1_Nonsense_Mutation_p.Q127*|MPI_ENST00000562606.1_Nonsense_Mutation_p.Q107*|MPI_ENST00000565576.1_Nonsense_Mutation_p.Q127*|MPI_ENST00000535694.1_Nonsense_Mutation_p.Q77*|MPI_ENST00000323744.6_Nonsense_Mutation_p.Q127*|MPI_ENST00000566377.1_Nonsense_Mutation_p.Q127*			P34949	MPI_HUMAN	mannose phosphate isomerase	127					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCAGGCTCCGCAGCACTACCC	0.602000													12	45					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33451068	33451068	+	Missense_Mutation	SNP	G	G	A	rs147770891		TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr8:33451068G>A	ENST00000256261.4	-	3	936	c.419C>T	c.(418-420)gCg>gTg	p.A140V	DUSP26_ENST00000523956.1_Missense_Mutation_p.A140V	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	140	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A140V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTGGCTCAGCGCCCGGTGGAT	0.607000													10	44					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79985273	79985273	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:79985273G>C	ENST00000306688.3	+	7	1128	c.786G>C	c.(784-786)ttG>ttC	p.L262F		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	262						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCCTCGACTTGATGGAGACTA	0.632000													17	107					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20548852	20548852	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr18:20548852A>T	ENST00000399722.2	+	5	683	c.332A>T	c.(331-333)cAg>cTg	p.Q111L	RBBP8_ENST00000360790.5_Missense_Mutation_p.Q111L|RBBP8_ENST00000399725.2_Missense_Mutation_p.Q111L|RBBP8_ENST00000327155.5_Missense_Mutation_p.Q111L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	111					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AATATCCGGCAGCAGAATCTT	0.318000								Homologous recombination					8	26					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119914519	119914519	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:119914519G>A	ENST00000272520.3	-	2	1342	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	241	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGTAGTCGTAGTTCTGGTCGG	0.617000										HNSCC(49;0.14)			42	214					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577000													24	126					1.10923e-09	1.21007e-09	1	1	0
NELFCD	51497	broad.mit.edu	37	20	57568727	57568727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr20:57568727C>T	ENST00000602795.1	+	13	1591	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	NELFCD_ENST00000344018.3_Nonsense_Mutation_p.R506*|NELFCD_ENST00000479207.1_3'UTR					negative elongation factor complex member C/D																		CCTGCTGAGTCGAGGTTATGT	0.498000													16	94					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:142803646G>T	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													3	43					0.150653	0.150653	1	1	0
GPC4	2239	broad.mit.edu	37	X	132438874	132438874	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:132438874C>G	ENST00000370828.3	-	7	1695	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	GPC4_ENST00000535467.1_Missense_Mutation_p.E321Q	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	391			E -> D (in dbSNP:rs1129980).		anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTTTCTCCTTGACATCA	0.428000													29	39					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105903920	105903920	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:105903920C>T	ENST00000222553.3	-	7	1194	c.887G>A	c.(886-888)aGa>aAa	p.R296K	NAMPT_ENST00000354289.4_Missense_Mutation_p.R296K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	296					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTAAATGTCTTAGATCTTC	0.363000													7	41					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652168	15652168	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:15652168C>T	ENST00000262041.5	-	3	1168	c.759G>A	c.(757-759)gcG>gcA	p.A253A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	253					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCCGAGCCGCAGCTCCTT	0.507000													23	125					0	0	1	0	0
CDRT4	284040	broad.mit.edu	37	17	15343542	15343542	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:15343542C>T	ENST00000312177.6	-	3	291	c.11G>A	c.(10-12)aGa>aAa	p.R4K	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_Intron|TVP23C_ENST00000519970.1_Intron	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	4										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTTCATCCTTCTTGCATCCAT	0.468000													7	38					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													8	161					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918777	21918777	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:21918777G>A	ENST00000240662.2	-	3	1500	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	385						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTCTTCTCATGGAGTTGCGCT	0.448000													30	99					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41767764	41767764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr15:41767764C>G	ENST00000389629.4	+	10	1340	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	443	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAGTTTGTCTCAAACCAAGAA	0.423000													15	59					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72007168	72007168	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:72007168T>G	ENST00000378743.3	-	31	5932	c.5574A>C	c.(5572-5574)aaA>aaC	p.K1858N		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1858					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTTCCAAGGTTTTGGAATGCT	0.393000													4	38					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39743027	39743027	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:39743027G>A	ENST00000167586.6	-	1	146	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	20	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				tgccgcccccgatgccgcAGG	0.701000													3	14					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631071	122631071	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr3:122631071G>C	ENST00000195173.4	-	19	3144	c.2841C>G	c.(2839-2841)atC>atG	p.I947M	SEMA5B_ENST00000451055.2_Missense_Mutation_p.I1002M|SEMA5B_ENST00000357599.3_Missense_Mutation_p.I948M			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	948	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCCGAGACAGATGTCCTCAC	0.642000													9	21					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662000													11	130					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169952067	169952067	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr2:169952067G>A	ENST00000327239.4	+	8	2254	c.750G>A	c.(748-750)ctG>ctA	p.L250L	DHRS9_ENST00000412271.1_Silent_p.L250L|DHRS9_ENST00000428522.1_Silent_p.L250L|DHRS9_ENST00000421653.1_Silent_p.L103L|DHRS9_ENST00000436483.2_Silent_p.L250L|DHRS9_ENST00000432060.2_Silent_p.L310L|DHRS9_ENST00000602501.1_Silent_p.L250L|DHRS9_ENST00000357546.2_Silent_p.L250L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	250					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGACAAACTGAAAGGCAATA	0.453000													29	139					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19439351	19439351	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:19439351G>T	ENST00000375267.2	-	78	11471	c.11468C>A	c.(11467-11469)gCt>gAt	p.A3823D	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3816D|UBR4_ENST00000375254.3_Missense_Mutation_p.A3823D|UBR4_ENST00000375226.2_Missense_Mutation_p.A3799D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3823					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTGCGCGAAGCAAAGACTTT	0.403000													43	142					5.44703e-19	6.28503e-19	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109943935	109943935	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:109943935A>T	ENST00000218054.4	-	7	749	c.553T>A	c.(553-555)Tca>Aca	p.S185T	CHRDL1_ENST00000372042.1_Missense_Mutation_p.S186T|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S185T|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S185T|CHRDL1_ENST00000482160.1_Missense_Mutation_p.S106T|CHRDL1_ENST00000434224.1_Missense_Mutation_p.S106T|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S179T	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	179					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGTTCCCATGACAGTTCTCCA	0.398000													12	22					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115361675	115361675	+	Splice_Site	SNP	C	C	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:115361675C>A	ENST00000357872.4	+	20	2957	c.2832_splice	c.e20-1	p.L945_splice	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		945					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTCCTTCCAGCTGCAGCAGTT	0.388000													10	33					0.000673444	0.000679103	1	1	0
LRP1	4035	broad.mit.edu	37	12	57570909	57570909	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:57570909C>T	ENST00000243077.3	+	25	4543	c.4077C>T	c.(4075-4077)taC>taT	p.Y1359Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1359					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAACATCTACTGGGTGGAGA	0.597000													23	70					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71686699	71686699	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr16:71686699G>A	ENST00000393524.2	-	16	3343	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	PHLPP2_ENST00000540628.1_Silent_p.I147I|PHLPP2_ENST00000568954.1_Silent_p.I937I|PHLPP2_ENST00000360429.3_Silent_p.I937I|PHLPP2_ENST00000567016.1_Silent_p.I972I|PHLPP2_ENST00000356272.3_Silent_p.I937I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	937	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACACCTCTGTGATGATGGCTT	0.552000													9	49					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147793811	147793811	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:147793811C>G	ENST00000340253.5	+	10	1374	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	FBXO38_ENST00000296701.6_Missense_Mutation_p.I402M|FBXO38_ENST00000513826.1_Missense_Mutation_p.I402M|FBXO38_ENST00000394370.3_Missense_Mutation_p.I402M			Q6PIJ6	FBX38_HUMAN	F-box protein 38	402						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTGTATCAAATATCTGG	0.368000													12	61					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055794	93055794	+	Silent	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:93055794C>T	ENST00000359558.2	-	16	1700	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	CALCR_ENST00000421592.1_Silent_p.A449A|CALCR_ENST00000426151.1_Silent_p.A433A|CALCR_ENST00000394441.1_Silent_p.A433A|CALCR_ENST00000360249.4_Silent_p.A449A	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	449					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.A433A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGCCAGCCTCCGCAGCAGCGG	0.582000													27	115					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165950	53165950	+	Silent	SNP	G	G	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr12:53165950G>T	ENST00000332411.2	-	5	1118	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	355	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGCGGACCTCGGCAATGATGC	0.592000													9	56					7.48243e-07	7.94594e-07	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56243935	56243935	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:56243935G>C	ENST00000332836.2	-	2	1289	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	421	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCAGACTCAGATAACCCATT	0.498000													52	106					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142416771	142416771	+	Silent	SNP	G	G	A			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr5:142416771G>A	ENST00000378004.3	+	13	1510	c.1155G>A	c.(1153-1155)ttG>ttA	p.L385L	ARHGAP26_ENST00000274498.4_Silent_p.L385L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	385	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCGCAGTTGGACAGCATTG	0.458000													11	37					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127540875	127540875	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr10:127540875G>C	ENST00000284690.3	-	6	1828	c.1338C>G	c.(1336-1338)ttC>ttG	p.F446L	DHX32_ENST00000284688.6_Missense_Mutation_p.F365L|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.F70L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	446						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCTGTTCATGAAGTCACAGT	0.512000													6	39					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960623	150960623	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr1:150960623C>T	ENST00000368947.4	+	11	1230	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	252					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTCCAGAACCGTTTCCATGG	0.532000													9	66					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303033	135303033	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chrX:135303033C>T	ENST00000316077.9	-	16	2597	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	MAP7D3_ENST00000370663.5_Missense_Mutation_p.D775N|MAP7D3_ENST00000370661.1_Missense_Mutation_p.D758N	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	793						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGGTACCATCTTCTAGAAAT	0.378000													71	110					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	5	---	---	---	---					
ARMC10	83787	broad.mit.edu	37	7	102724150	102724151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:102724150_102724151insT	ENST00000323716.3	+	3	658_659	c.266_267insT	c.(265-267)tgafs	p.*89fs	ARMC10_ENST00000454559.1_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000441711.2_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000428183.2_Frame_Shift_Ins_p.*89fs|ARMC10_ENST00000425331.1_Frame_Shift_Ins_p.*54fs|ARMC10_ENST00000541300.1_Frame_Shift_Ins_p.*54fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	89					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GATGGTTCATATGATGATGTTC	0.361													9	36	---	---	---	---					
METTL2B	55798	broad.mit.edu	37	7	128119226	128119227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr7:128119226_128119227insT	ENST00000480046.1	+	2	137_138	c.22_23insT	c.(22-24)tgcfs	p.C8fs	METTL2B_ENST00000262432.8_Frame_Shift_Ins_p.C73fs			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	73							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTATGAGATCAATGCCCACAAA	0.337													19	49	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577114	7577126	+	Frame_Shift_Del	DEL	CAAACACGCACCT	CAAACACGCACCT	-	rs121912657	by1000genomes	TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr17:7577114_7577126delCAAACACGCACCT	ENST00000420246.2	-	8	944_956	c.812_824delAGGTGCGTGTTTG	c.(811-825)gtfs	p.EVRVC271fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.EVRVC271fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.EVRVC271fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.C275Y(53)|p.C275F(37)|p.R273P(32)|p.V272L(26)|p.V274F(21)|p.V274A(19)|p.R273S(16)|p.V274L(11)|p.R273G(9)|p.V274D(9)|p.V272E(8)|p.V274G(8)|p.0?(8)|p.C275G(7)|p.V272A(7)|p.C275R(7)|p.E271V(6)|p.V272G(6)|p.V272V(5)|p.C275fs*70(4)|p.V274I(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.V274V(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.C275fs*31(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.?(2)|p.C275S(2)|p.E271E(2)|p.E271fs*73(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.R273R(1)|p.E258fs*71(1)|p.E271*(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.E271del(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.E271P(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.A276fs*29(1)|p.E271fs*34(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCACCTCAAAGCTGTT	0.531	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	32	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15466133	15466135	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:15466133_15466135delCTC	ENST00000269701.2	-	14	1730_1732	c.1670_1672delGAG	c.(1669-1674)gat>g	p.GD557del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	557					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AAATTGTCATCTCCTTCCATTTC	0.542													26	94	---	---	---	---					
CYP4F24P	388514	broad.mit.edu	37	19	15871993	15871994	+	RNA	INS	-	-	C			TCGA-BB-7872-01A-11D-2229-08	TCGA-BB-7872-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c05cb0b5-b288-48fb-bdc0-ee9acd6643a8	02e5dbe6-3c6f-4696-80bc-5b5ddb764980	g.chr19:15871993_15871994insC	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							AGGACAAGGATCCCCCTGAAGG	0.550													11	58	---	---	---	---					
