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
CABIN1	23523	broad.mit.edu	37	22	24463009	24463009	+	Silent	SNP	C	C	G			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:24463009C>G	ENST00000398319.2	+	16	2494	c.2109C>G	c.(2107-2109)ggC>ggG	p.G703G	CABIN1_ENST00000263119.5_Silent_p.G703G|CABIN1_ENST00000405822.2_Silent_p.G653G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	703					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGAAGCAGGCGACTACAAGG	0.547000													5	45					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911920	53911920	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:53911920C>A	ENST00000396408.3	+	4	1229	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TCACATTTTACATGCCATCAT	0.413000													31	109					1.39806e-14	1.49953e-14	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996671	20996671	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:20996671C>T	ENST00000261383.3	-	48	7392	c.7393G>A	c.(7393-7395)Gca>Aca	p.A2465T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2465	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATTGCCTGCGTAGTTCTTG	0.542000													7	26					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6696608	6696608	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:6696608G>A	ENST00000245907.6	-	22	2951	c.2859C>T	c.(2857-2859)ggC>ggT	p.G953G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	953					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTCACCACGGCCCAGGCGTT	0.597000													72	187					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492314	25492314	+	RNA	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:25492314C>A	ENST00000453082.2	+	0	2775					NR_003343.1																						ATGGTGAGACCGGAGGAAGAC	0.582000													5	14					0.014758	0.0148698	1	1	0
POM121	9883	broad.mit.edu	37	7	72413760	72413760	+	Silent	SNP	C	C	T	rs113258116		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:72413760C>T	ENST00000395270.1	+	14	3474	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	POM121_ENST00000446813.1_Silent_p.T811T|POM121_ENST00000257622.4_Silent_p.T811T|POM121_ENST00000434423.2_Silent_p.T1076T|POM121_ENST00000358357.3_Silent_p.T811T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1076	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGGAGCCACCACCCAGACCG	0.677000													5	56					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954657	33954657	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:33954657C>T	ENST00000389232.4	+	35	4996	c.4926C>T	c.(4924-4926)ctC>ctT	p.L1642L	RYR3_ENST00000415757.3_Silent_p.L1642L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1642	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATCCGCCTCTTCCCGGACG	0.567000													5	22					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372477	55372477	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:55372477C>T	ENST00000297316.4	+	2	1371	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	389	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGAATCTCCCCGACAGCCACG	0.607000													12	31					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74962637	74962637	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:74962637G>A	ENST00000299727.3	+	1	133	c.133G>A	c.(133-135)Gcg>Acg	p.A45T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	45					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTGATCTTCGCGCTGGGTGT	0.682000													12	20					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652000													23	72					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75051093	75051093	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:75051093G>A	ENST00000453279.2	-	13	3306	c.2442C>T	c.(2440-2442)acC>acT	p.T814T	POM121C_ENST00000257665.5_Silent_p.T1056T	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1056	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGTCTGGGTGGTGGCTCCAA	0.672000													8	86					0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89769908	89769908	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:89769908C>T	ENST00000316610.6	-	1	677	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A68T	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	68							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						TCCTCTTTGGCCTCTCGGTCC	0.692000													4	4					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70617101	70617101	+	Splice_Site	SNP	A	A	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:70617101A>T	ENST00000449580.1	+	23	3454		c.e23-1		TAF1_ENST00000423759.1_Splice_Site|TAF1_ENST00000373790.4_Splice_Site|TAF1_ENST00000276072.3_Splice_Site			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTACCTTGCAGCAGCAGGCT	0.453000													7	25					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943408	50943408	+	Silent	SNP	C	C	T	rs139453267		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:50943408C>T	ENST00000216080.5	-	10	1353	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	LMF2_ENST00000474879.2_Silent_p.P420P|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	420						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTAGGAGTACGGCACCTGGA	0.687000													10	26					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152451909	152451909	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:152451909C>T	ENST00000367255.5	-	145	26700	c.26099G>A	c.(26098-26100)cGa>cAa	p.R8700Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.R8652Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R3224Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R878Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8652Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8312Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R855Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8700Q|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8700	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACACTTGCCTCGTGGCTGTTT	0.458000										HNSCC(10;0.0054)			11	19					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351372	10351372	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:10351372A>C	ENST00000255381.2	-	34	4838	c.4728T>G	c.(4726-4728)atT>atG	p.I1576M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1576					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTTCGGTCAATCTCAGATT	0.383000													4	63					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48925109	48925109	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:48925109G>A	ENST00000376396.3	+	10	1573	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	CCDC120_ENST00000536628.2_Missense_Mutation_p.G440S|CCDC120_ENST00000496529.2_Missense_Mutation_p.G452S|CCDC120_ENST00000422185.2_Missense_Mutation_p.G452S|CCDC120_ENST00000603986.1_Missense_Mutation_p.G487S|CCDC120_ENST00000597275.1_Missense_Mutation_p.G452S	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	452	Pro-rich.						protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTTGGACCGGGGCCTGCCCCG	0.716000													12	41					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769879	31769879	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:31769879C>T	ENST00000240587.4	-	2	1147	c.820G>A	c.(820-822)Gtg>Atg	p.V274M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	274					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CACTTCAGCACCTTCTGGGCG	0.507000													35	101					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30803413	30803413	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:30803413C>A	ENST00000312932.9	+	5	504	c.244C>A	c.(244-246)Cag>Aag	p.Q82K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.Q82K|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000403484.1_Missense_Mutation_p.Q8K|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	82	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGTGATCCAACAGTATCTGTC	0.542000													43	177					3.76604e-16	4.07222e-16	1	1	0
AOC4P	90586	broad.mit.edu	37	17	41019486	41019486	+	RNA	SNP	G	G	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:41019486G>T	ENST00000585538.1	+	0	325					NR_002773.1																						GACCTGAGCCGAGAGGAGCTG	0.622000													10	188					7.48243e-07	7.71444e-07	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67572623	67572623	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:67572623G>A	ENST00000540839.3	+	4	433	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.A65A|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Silent_p.A71A|FAM65A_ENST00000379312.3_Silent_p.A55A|FAM65A_ENST00000042381.4_Silent_p.A51A			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	55						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCCCCCCGCGCTCTCCCGAG	0.682000													16	88					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51203860	51203860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:51203860C>A	ENST00000395542.2	-	7	1211	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	COBL_ENST00000395540.2_Nonsense_Mutation_p.E318*|COBL_ENST00000265136.7_Nonsense_Mutation_p.E318*|COBL_ENST00000441453.1_Nonsense_Mutation_p.E318*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	301	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTACCTTTTCCGATGCCTTG	0.542000													23	26					7.92952e-12	8.43701e-12	1	1	0
ZNF341	84905	broad.mit.edu	37	20	32378906	32378906	+	Silent	SNP	C	C	T	rs61734271	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:32378906C>T	ENST00000375200.1	+	15	2513	c.2148C>T	c.(2146-2148)tgC>tgT	p.C716C	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C709C			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGCTGGCTGCGCCAAGGGCT	0.637000													7	39					0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333957	33333957	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:33333957C>T	ENST00000373471.3	-	3	309	c.18G>A	c.(16-18)caG>caA	p.Q6Q		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	65						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTTCACCTCCTGGATGAAGC	0.617000													10	44					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	rs145693444	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502000										HNSCC(75;0.22)			38	61					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174603	11174603	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:11174603G>C	ENST00000390673.2	-	1	616	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	190					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L190V(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTAGGCTCAGAGTAAAGGGT	0.398000													18	105					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954658	33954658	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:33954658T>A	ENST00000389232.4	+	35	4997	c.4927T>A	c.(4927-4929)Ttc>Atc	p.F1643I	RYR3_ENST00000415757.3_Missense_Mutation_p.F1643I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1643	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATCCGCCTCTTCCCGGACGA	0.572000													5	23					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597000													4	166					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430086	29430086	+	Silent	SNP	A	A	G			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:29430086A>G	ENST00000377136.1	+	4	1005	c.540A>G	c.(538-540)ccA>ccG	p.P180P	OR2H1_ENST00000377132.1_Silent_p.P180P|OR2H1_ENST00000442615.1_Silent_p.P180P|OR2H1_ENST00000377133.1_Silent_p.P180P|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Silent_p.P180P			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGAGGTCCCATCTCTGATTC	0.502000													52	136					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634457	122634457	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:122634457C>T	ENST00000195173.4	-	14	2121	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	SEMA5B_ENST00000357599.3_Silent_p.V606V|SEMA5B_ENST00000451055.2_Silent_p.V660V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	606					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)		CATCCCGTGTCACATTCCGCA	0.557000													6	28					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725117	30725117	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:30725117G>A	ENST00000361762.2	+	1	3081	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	PCDH7_ENST00000543491.1_Silent_p.T691T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	691	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAATGACACGGGGACCATTT	0.483000													42	124					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46233255	46233255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:46233255C>T	ENST00000334344.6	+	11	1646	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q102*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q343*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	492					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTCCAAACCCAGACTCATGT	0.398000			"""N, S, F"""		hepatocellular carcinoma								23	90					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524101	43524101	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr21:43524101G>A	ENST00000400427.1	+	9	1603	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	UMODL1_ENST00000408989.2_Missense_Mutation_p.G475R|C21orf128_ENST00000329015.2_Silent_p.P44P|UMODL1_ENST00000408910.2_Missense_Mutation_p.G475R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G403R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	475	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAGGACCCCGGGTTTCCCAT	0.602000													28	126					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192141	125192141	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:125192141G>A	ENST00000431078.1	+	5	974	c.610G>A	c.(610-612)Gtg>Atg	p.V204M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCAAAGATGTGATCTCCCT	0.493000													17	41					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068550	27068550	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:27068550G>A	ENST00000268766.6	+	14	2045	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	671						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGTGACTTCCGTGTCCTGTTG	0.587000													19	70					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89287686	89287686	+	Splice_Site	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:89287686G>A	ENST00000370521.3	+	17	2701	c.2342_splice	c.e17+1	p.R781_splice	PKN2_ENST00000370513.5_Splice_Site_p.R733_splice|PKN2_ENST00000544045.1_Splice_Site_p.R455_splice|PKN2_ENST00000370505.3_Splice_Site_p.R624_splice	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	781	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTGTTTATAGGTAAGTTAAT	0.249000													5	5					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123143278	123143278	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:123143278G>A	ENST00000466202.1	-	4	1248	c.672C>T	c.(670-672)atC>atT	p.I224I	IQUB_ENST00000434450.1_Silent_p.I224I|IQUB_ENST00000324698.6_Silent_p.I224I|IQUB_ENST00000488987.1_5'UTR			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	224										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGACAGTTATGATTTGAGAGA	0.353000													9	46					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32154558	32154558	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:32154558G>A	ENST00000400246.1	+	3	227	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.V29M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000536766.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V29M|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V29M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V29M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V29M			O75140	DEPD5_HUMAN	DEP domain containing 5	29					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAACCCCAAAGTGTTCCCTCA	0.438000													17	37					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789538	21789538	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:21789538C>T	ENST00000206660.6	+	12	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.R172C|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R503C|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R503C|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R530C			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	530					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATTCTGCAGCGCAAAATCAA	0.463000													7	38					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659169	50659169	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:50659169G>A	ENST00000439308.2	-	16	4111	c.3619C>T	c.(3619-3621)Ccc>Tcc	p.P1207S	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P1207S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1207	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCGGGTGGGAGCCATGTCT	0.622000													11	48					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235417	8235417	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:8235417C>T	ENST00000520004.1	-	3	766	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SGK223_ENST00000330777.4_Missense_Mutation_p.E168K			Q86YV5	SG223_HUMAN		168							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGCGGGGCTCAAGGTTGTGC	0.592000													21	46					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320979	78320979	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr13:78320979G>A	ENST00000466548.1	+	5	1207	c.1181G>A	c.(1180-1182)aGg>aAg	p.R394K	SLAIN1_ENST00000351546.3_Missense_Mutation_p.R131K|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R252K|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R175K|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R131K|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R175K	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	394										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAACCAAATAGGACCAATGGA	0.358000													13	43					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84027957	84027957	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:84027957G>A	ENST00000280241.8	-	1	231	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.R78W	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGGCTTTTCCGCACACTGTCC	0.597000													3	54					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15466554	15466554	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:15466554C>T	ENST00000443029.1	-	3	508	c.268G>A	c.(268-270)Gtt>Att	p.V90I	METTL6_ENST00000383790.3_Missense_Mutation_p.V90I|METTL6_ENST00000383789.5_Missense_Mutation_p.V90I|METTL6_ENST00000450816.2_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6	90							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CAGTTTCCAACCCCACAGCCA	0.373000													13	46					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	50					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386380	56386380	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:56386380C>T	ENST00000355701.3	-	22	5123	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1418H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1358H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1418						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCCGCCTGCGGCTTGGGGG	0.662000													5	129					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416590	121416590	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:121416590A>G	ENST00000393667.3	-	13	2890	c.2780T>C	c.(2779-2781)tTt>tCt	p.F927S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.F922S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	922					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCCAAGAGAAAACTTCTCTTC	0.378000													16	81					0	0	1	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28967639	28967639	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:28967639T>C	ENST00000320805.4	+	5	902	c.827T>C	c.(826-828)gTc>gCc	p.V276A	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	276						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GCTGACCTGGTCAGATTGCCC	0.617000													5	20					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304625	304625	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:304625G>A	ENST00000399932.3	+	3	664	c.213G>A	c.(211-213)ccG>ccA	p.P71P	ITFG3_ENST00000442458.2_Silent_p.P71P|ITFG3_ENST00000301678.3_Silent_p.P71P|ITFG3_ENST00000301679.2_Silent_p.P71P|ITFG3_ENST00000450082.2_Silent_p.P71P|ITFG3_ENST00000600536.1_Silent_p.P71P			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	71						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCGTCATCCCGTGTCCAGACC	0.607000													14	254					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633177	51633177	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:51633177C>T	ENST00000250360.3	+	7	1300	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	411					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGCAGAAGACAGTCCCCCAG	0.602000													50	67					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89169065	89169065	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:89169065C>T	ENST00000317447.4	+	4	1097	c.720C>T	c.(718-720)caC>caT	p.H240H	ACSF3_ENST00000406948.3_Silent_p.H240H|ACSF3_ENST00000378345.4_5'UTR	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	240					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGATCCTCCACGTGCTCCCGC	0.622000													12	40					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32783029	32783029	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr13:32783029G>A	ENST00000380250.3	+	32	4554	c.4058G>A	c.(4057-4059)cGc>cAc	p.R1353H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAACGGGCGCCAGATCATG	0.557000													19	55					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779517	205779517	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:205779517G>A	ENST00000367137.3	-	2	1067	c.53C>T	c.(52-54)cCt>cTt	p.P18L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	18						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGCAGAAGGGCCAGTCCC	0.597000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	63					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34506204	34506204	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr6:34506204G>A	ENST00000374037.3	-	6	1269	c.855C>T	c.(853-855)gcC>gcT	p.A285A	SPDEF_ENST00000544425.1_Silent_p.A269A	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	285					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GGGCCACCTGGGCTGAGTCCT	0.587000													36	86					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906436	120906436	+	Silent	SNP	C	C	T	rs145128194		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:120906436C>T	ENST00000310396.5	+	19	2933	c.2466C>T	c.(2464-2466)ccC>ccT	p.P822P		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CCTACTATCCCCAGTTCTGGA	0.403000													19	65					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27509034	27509034	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:27509034G>A	ENST00000301904.3	+	3	136	c.116G>A	c.(115-117)gGg>gAg	p.G39E	SCARA3_ENST00000337221.4_Missense_Mutation_p.G39E	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	39					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCGGCCAGGGCCCCGCTGC	0.617000													11	18					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151815526	151815526	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:151815526G>C	ENST00000370306.2	+	4	444	c.424G>C	c.(424-426)Gac>Cac	p.D142H		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	142						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGTCCCTGACTGCTACTT	0.488000													17	69					0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140076840	140076840	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:140076840G>A	ENST00000230771.3	+	10	1269	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	HARS2_ENST00000508522.1_Missense_Mutation_p.G324E|HARS2_ENST00000432671.2_Missense_Mutation_p.G235E|HARS2_ENST00000448069.2_Missense_Mutation_p.G177E|HARS2_ENST00000437649.2_Missense_Mutation_p.G275E|HARS2_ENST00000435019.2_Missense_Mutation_p.G309E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	349					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGGCTGGGGAGGAGCCC	0.597000													18	59					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352739	117352739	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:117352739C>T	ENST00000321322.6	-	12	2679	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R623H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	833	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGCATGACGCGGTCAGGGTC	0.632000													16	43					0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4267682	4267682	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:4267682G>A	ENST00000262962.7	+	7	838	c.770G>A	c.(769-771)cGg>cAg	p.R257Q		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	257										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGGGCAGCCGGCCCCCGCTG	0.682000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299186	54299186	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:54299186C>T	ENST00000324134.6	-	9	3193	c.3025G>A	c.(3025-3027)Gcc>Acc	p.A1009T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A952T|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1010T|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000351894.4_Missense_Mutation_p.A897T|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1009					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGGCGTTGTTGGTC	0.557000													14	18					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130078366	130078366	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:130078366G>A	ENST00000278742.5	+	17	2474	c.2056G>A	c.(2056-2058)Gcc>Acc	p.A686T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	686	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.A686T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCAGCGCAGCGCCCCTGGGGT	0.627000													13	33					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214503	8214503	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:8214503G>A	ENST00000539824.1	+	4	469	c.95G>A	c.(94-96)gGc>gAc	p.G32D	SH3TC1_ENST00000245105.3_Missense_Mutation_p.G108D			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	108							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACCCTCCGGGGCCAGCTCCGC	0.687000													7	11					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61027014	61027014	+	Silent	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:61027014C>A	ENST00000406396.3	-	3	601	c.210G>T	c.(208-210)ctG>ctT	p.L70L	KDSR_ENST00000326575.5_Silent_p.L70L	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	70					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCTTTGCCTGCAGCAGCTTAT	0.348000													6	28					1	1	1	1	0
SNX31	169166	broad.mit.edu	37	8	101589289	101589289	+	Silent	SNP	C	C	G	rs149337394	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:101589289C>G	ENST00000311812.2	-	13	1335	c.1185G>C	c.(1183-1185)ccG>ccC	p.P395P	SNX31_ENST00000428383.2_Silent_p.P296P	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	395					cell communication|protein transport		phosphatidylinositol binding	p.P395P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGCTTTGTTCCGGAACTTCAA	0.348000													36	71					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557000													33	86					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11883823	11883823	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:11883823G>A	ENST00000346436.6	+	7	565	c.513G>A	c.(511-513)gtG>gtA	p.V171V	CLCN6_ENST00000312413.6_Silent_p.V171V|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.V171V|CLCN6_ENST00000376487.3_Silent_p.V149V	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	171					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTAAAGGTGCCAGGAATCG	0.542000													18	40					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976687	24976687	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:24976687G>A	ENST00000250378.3	-	2	113	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	28	Peptidase S1.			C -> S (in Ref. 7; AAB26828).	interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		AATGTGGCTTGCATTCTGTGC	0.493000													32	99					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8134741	8134741	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:8134741C>T	ENST00000315684.8	-	15	2529	c.2522G>A	c.(2521-2523)cGt>cAt	p.R841H		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	841					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCCAGAGGACGCCGAGATAT	0.532000													6	25					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522000													5	169					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038996	31038996	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:31038996G>A	ENST00000355537.3	+	4	2617	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACAAGGATGAGATGTCAAG	0.562000													19	107					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72299887	72299887	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:72299887G>A	ENST00000334456.5	-	13	1256	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	PDE2A_ENST00000540345.1_Silent_p.S328S|PDE2A_ENST00000444035.2_Silent_p.S328S|PDE2A_ENST00000544570.1_Silent_p.S330S|PDE2A_ENST00000418754.2_Silent_p.S222S|PDE2A_ENST00000376450.3_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	337	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGTGGCCCGGCTGATGACAG	0.577000													19	54					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648500	20648500	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:20648500G>T	ENST00000219151.4	-	9	1322	c.112C>A	c.(112-114)Cct>Act	p.P38T	ACSM1_ENST00000307493.4_Intron|ACSM1_ENST00000520010.1_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGCTGCCAGGGTCAGCGGTG	0.478000													15	78					1.15088e-07	1.19583e-07	1	1	0
GIT1	28964	broad.mit.edu	37	17	27903140	27903140	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr17:27903140C>T	ENST00000225394.3	-	15	1869	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	GIT1_ENST00000394869.3_Missense_Mutation_p.D550N|GIT1_ENST00000581348.1_Missense_Mutation_p.D550N|GIT1_ENST00000579937.1_Missense_Mutation_p.D541N|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	541					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATGGCGTCGTCCTCTAGCTCC	0.607000													22	54					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212583849	212583849	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:212583849C>T	ENST00000261455.4	-	2	188	c.51G>A	c.(49-51)ttG>ttA	p.L17L	TMEM206_ENST00000535273.1_Silent_p.L78L|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	17						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCACCTGGACCAACTCCTCAC	0.502000													62	201					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008652	88008652	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:88008652T>A	ENST00000276127.4	+	3	496	c.237T>A	c.(235-237)gaT>gaA	p.D79E	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D79E	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	79						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCAAAAAGATCAACGAGAAG	0.458000													4	24					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139218317	139218317	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:139218317G>A	ENST00000274710.3	+	13	2133	c.1928G>A	c.(1927-1929)tGt>tAt	p.C643Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	643					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGTTCTGTCGGCCCCTG	0.617000													10	27					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15590480	15590480	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:15590480G>A	ENST00000378076.3	-	27	3207	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	952					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCCCATAATCGTGACCTGACT	0.483000													18	24					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025591	16025591	+	Silent	SNP	G	G	A	rs150098509	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:16025591G>A	ENST00000326742.7	-	9	1231	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	CYP4F11_ENST00000402119.3_Silent_p.D410D|CYP4F11_ENST00000248041.7_Silent_p.D410D			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	410					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGACGCGGCCGTCTGGGAGCA	0.637000													23	72					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829224	31829224	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:31829224C>A	ENST00000354297.4	+	6	686	c.615C>A	c.(613-615)gaC>gaA	p.D205E	BPIFA1_ENST00000375422.2_Missense_Mutation_p.D205E|BPIFA1_ENST00000375413.4_Missense_Mutation_p.D205E	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	205					innate immune response	extracellular region	lipid binding										GTCTTCTGGACAGCCTCACAG	0.537000													5	266					0.014758	0.0148698	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107267480	107267480	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr9:107267480G>A	ENST00000334726.2	+	1	1026	c.937G>A	c.(937-939)Gcc>Acc	p.A313T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTAATACTGCCTTCATTTC	0.358000													11	16					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58125689	58125689	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:58125689C>T	ENST00000257897.3	-	8	933	c.848G>A	c.(847-849)gGt>gAt	p.G283D	AGAP2_ENST00000547588.1_Missense_Mutation_p.G619D	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	619	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTCCCGGTGACCAACATTCGG	0.622000													6	16					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2737060	2737060	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:2737060C>T	ENST00000455372.2	-	2	401	c.196G>A	c.(196-198)Gct>Act	p.A66T	AC006538.4_ENST00000586572.1_Missense_Mutation_p.A66T|SLC39A3_ENST00000545664.1_Missense_Mutation_p.A66T|SLC39A3_ENST00000269740.4_Missense_Mutation_p.A66T	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	66						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCTCACAGCGGGCAGCAGA	0.542000													5	22					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460454	66460454	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:66460454C>T	ENST00000533211.1	-	25	5303	c.4972G>A	c.(4972-4974)Gag>Aag	p.E1658K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1658K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1658K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1658					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGGGTGCTCGTGGTCAATC	0.662000													7	287					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43916107	43916107	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:43916107G>A	ENST00000562955.1	+	71	10084	c.10084G>A	c.(10084-10086)Gtc>Atc	p.V3362I	SZT2_ENST00000372442.1_Missense_Mutation_p.V2520I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3419						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGGAGTCTGTCATCAACAC	0.582000													23	111					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38154058	38154058	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:38154058G>A	ENST00000406386.3	+	16	6381	c.6126G>A	c.(6124-6126)aaG>aaA	p.K2042K	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.K329K|TRIOBP_ENST00000403663.2_Silent_p.K329K	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2042					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAATAAGCGGGTGCCCC	0.652000													5	35					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532047	92532047	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:92532047G>A	ENST00000298047.6	+	9	5885	c.5868G>A	c.(5866-5868)aaG>aaA	p.K1956K	FAT3_ENST00000409404.2_Silent_p.K1956K|FAT3_ENST00000525166.1_Silent_p.K1806K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1956	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATAGTTAAGGTGTCTGATG	0.418000										TCGA Ovarian(4;0.039)			26	69					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824200	54824200	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:54824200G>A	ENST00000243911.2	+	1	413	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	138					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GATCGCCATCGTCCACAGCGA	0.552000													15	39					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74241808	74241808	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr15:74241808G>A	ENST00000261921.7	+	6	1937	c.1611G>A	c.(1609-1611)gtG>gtA	p.V537V	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	537	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGTGCACGTGAACCCAAAGT	0.488000													28	116					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548909	7548909	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:7548909C>T	ENST00000313599.3	-	8	1889	c.1832G>A	c.(1831-1833)gGc>gAc	p.G611D	CD163L1_ENST00000416109.2_Missense_Mutation_p.G621D|CD163L1_ENST00000396630.1_Missense_Mutation_p.G611D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	611	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTGTTCCAGCCGTCATCACA	0.562000													12	43					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42177162	42177162	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:42177162C>T	ENST00000520810.1	+	15	1762	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	IKBKB_ENST00000520835.1_Missense_Mutation_p.R524W|IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.R303W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R467W	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	526			R -> Q (in dbSNP:rs2272736).		anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCTCTGTGGGCGGGTAGGAGA	0.453000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16264172	16264172	+	Silent	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:16264172C>T	ENST00000339732.5	+	9	2183	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	GALNT15_ENST00000437509.1_Silent_p.H560H	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GCCCACAGCACCTGTGCTTTG	0.542000													78	68					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70302229	70302229	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:70302229A>G	ENST00000261772.8	-	8	1159	c.1016T>C	c.(1015-1017)cTc>cCc	p.L339P		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	339					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCTGGCATTGAGCTTTTCATG	0.502000													21	60					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8398911	8398911	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:8398911G>A	ENST00000330915.3	-	5	1582	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KANK3_ENST00000593649.1_Missense_Mutation_p.S506F	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	506										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTCATCCCCGGAGCCCGAGGA	0.741000													3	1					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186554	239186554	+	Silent	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:239186554C>A	ENST00000254657.3	-	2	303	c.24G>T	c.(22-24)ccG>ccT	p.P8P	PER2_ENST00000440245.1_Silent_p.P8P|PER2_ENST00000355768.2_Silent_p.P8P|PER2_ENST00000254658.3_Silent_p.P8P	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	8					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGCTGGGCGGAAATTCCG	0.602000													7	14					2.17888e-05	2.22916e-05	1	1	0
ZNF527	84503	broad.mit.edu	37	19	37879456	37879456	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:37879456G>T	ENST00000436120.2	+	5	612	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTAATTCTGGGAGAAGCAT	0.373000													7	62					1.06961e-07	1.12015e-07	1	1	0
DHTKD1	55526	broad.mit.edu	37	10	12139932	12139932	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:12139932G>A	ENST00000263035.4	+	8	1670	c.1608G>A	c.(1606-1608)atG>atA	p.M536I	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	536					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTGTTGGCATGAAGTCTGTAG	0.572000													10	65					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41546092	41546092	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr22:41546092G>A	ENST00000263253.7	+	14	3926	c.2707G>A	c.(2707-2709)Gct>Act	p.A903T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	903					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTCACTTCCTGCTGCACCTTC	0.617000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				10	26					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679314	219679314	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:219679314C>T	ENST00000258415.4	+	8	1737	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	437					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GACCCCACTGCCTTCTCTGAG	0.582000													14	47					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349476	65349476	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr11:65349476G>A	ENST00000309295.4	+	9	1598	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	445										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCGACAGGGGTGATGCCTGA	0.607000													8	44					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31349792	31349792	+	Splice_Site	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr14:31349792G>A	ENST00000460581.2	+	6	691		c.e6-1		COCH_ENST00000475087.1_Splice_Site|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Splice_Site|COCH_ENST00000382493.4_5'UTR|COCH_ENST00000216361.4_Splice_Site			O43405	COCH_HUMAN	cochlin						sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GTTGTTCGCAGATTGTAAAGC	0.408000													5	80					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22416488	22416488	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:22416488C>T	ENST00000315554.8	+	6	643	c.539C>T	c.(538-540)cCg>cTg	p.P180L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000344548.3_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	180					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCGAGCCTCCGGAAACTCAA	0.468000													6	28					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531568	140531568	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:140531568C>T	ENST00000231136.1	+	1	1730	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A441V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		577	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCCCGGGCGGCCGAGCCG	0.697000													23	76					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.352_splice	c.e3-1	p.G118_splice		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	23					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131484963	131484963	+	Silent	SNP	G	G	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:131484963G>T	ENST00000261654.5	+	9	1561	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	GPR133_ENST00000535015.1_Silent_p.L366L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCTTCTACTGCCTGGTTGGA	0.498000													22	55					1.10923e-09	1.17086e-09	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27278028	27278028	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr2:27278028C>A	ENST00000360131.4	+	6	974	c.815C>A	c.(814-816)cCt>cAt	p.P272H	AGBL5_ENST00000323064.8_Missense_Mutation_p.P272H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	272					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTCCGACCTGATGATCCC	0.527000													23	106					6.21321e-17	6.77342e-17	1	1	0
HFE2	148738	broad.mit.edu	37	1	145415835	145415835	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr1:145415835G>A	ENST00000336751.5	+	3	892	c.654G>A	c.(652-654)cgG>cgA	p.R218R	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Silent_p.R105R	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	218					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGCCACCCGGAAGGTCAGGC	0.567000													20	103					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109288094	109288094	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:109288094C>T	ENST00000228476.3	+	7	767	c.563C>T	c.(562-564)gCg>gTg	p.A188V	DAO_ENST00000551281.1_Missense_Mutation_p.A122V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	188					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGGGCTGGGGCGCTACAACGA	0.567000													6	21					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	884350	884350	+	Missense_Mutation	SNP	C	C	T	rs150270892	byFrequency	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:884350C>T	ENST00000314167.4	-	10	1161	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	GAK_ENST00000511163.1_Missense_Mutation_p.V272M	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	351					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGGGGCCCACGGGAGGGGGT	0.642000													14	16					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862755	8862755	+	Silent	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:8862755G>A	ENST00000396600.2	+	11	1679	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ABAT_ENST00000268251.8_Silent_p.P247P|ABAT_ENST00000569156.1_Silent_p.P247P|ABAT_ENST00000567812.1_Silent_p.P262P|ABAT_ENST00000425191.2_Silent_p.P247P	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	247				P -> T (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCATCGCACCGTTCCCACGGC	0.517000													74	154					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66151918	66151918	+	RNA	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:66151918C>T	ENST00000489520.2	-	0	1025					NR_026825.2																						TCAGTGGTTGCTCCTACCCAT	0.433000													3	13					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120795718	120795718	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr10:120795718G>A	ENST00000369144.3	-	22	4109	c.3982C>T	c.(3982-3984)Cgt>Tgt	p.R1328C	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R1294C	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1328					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.R1328C(1)|p.R1328S(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GGAACTCGACGAGGAGGGTCC	0.448000													20	52					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86667934	86667934	+	Splice_Site	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:86667934G>A	ENST00000456692.2	+	13	1282		c.e13-1		RASA1_ENST00000274376.6_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTCTTTGCAGGATTGGATGA	0.353000													3	31					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015609	41015609	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:41015609C>T	ENST00000295974.8	-	6	1455	c.826G>A	c.(826-828)Gat>Aat	p.D276N	APBB2_ENST00000513140.1_Missense_Mutation_p.D276N|APBB2_ENST00000508593.1_Missense_Mutation_p.D276N|APBB2_ENST00000506352.1_Missense_Mutation_p.D276N	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	276					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTGTTTCATCCGGGGAGCTG	0.512000													51	171					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298805	125298805	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:125298805C>T	ENST00000538699.1	-	2	1183	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G368D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAACCATGGCCGGTGCCCAC	0.652000													35	82					0	0	1	0	0
TSC22D3	1831	broad.mit.edu	37	X	106960004	106960004	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chrX:106960004G>A	ENST00000372397.2	-	1	361	c.38C>T	c.(37-39)gCg>gTg	p.A13V	TSC22D3_ENST00000372383.4_Intron|TSC22D3_ENST00000315660.4_Intron|TSC22D3_ENST00000372382.4_Intron|TSC22D3_ENST00000372384.2_Intron|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000506081.1_Intron	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	13	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGGTAGACCGCCACCTCCAT	0.602000													4	106					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320328	31320328	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr18:31320328C>T	ENST00000269197.5	+	11	2960	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	987					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATGATCAGTCAACCCGGAAC	0.423000													3	8					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													5	4	---	---	---	---					
CLPTM1L	81037	broad.mit.edu	37	5	1331941	1331943	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr5:1331941_1331943delTCT	ENST00000320895.5	-	8	1204_1206	c.947_949delAGA	c.(946-951)agc>a	p.KS316del	CLPTM1L_ENST00000507807.1_In_Frame_Del_p.KS183del|CLPTM1L_ENST00000320927.6_In_Frame_Del_p.KS316del	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	316					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGATCATGCTCTTCTTCTTCTT	0.537													9	47	---	---	---	---					
BRAT1	221927	broad.mit.edu	37	7	2578389	2578389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:2578389delG	ENST00000340611.4	-	14	2036	c.1780delC	c.(1780-1782)tgfs	p.L594fs	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	594					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGGAGCTCCAGGAACAGGCTC	0.672													11	56	---	---	---	---					
ELN	2006	broad.mit.edu	37	7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr7:73477649_73477651delCCG	ENST00000252034.7	+	28	2267_2269	c.1868_1870delCCG	c.(1867-1872)ccc>c	p.PA623del	ELN_ENST00000445912.1_In_Frame_Del_p.PA623del|ELN_ENST00000357036.5_In_Frame_Del_p.PA628del|ELN_ENST00000429192.1_In_Frame_Del_p.PA609del|ELN_ENST00000320399.6_In_Frame_Del_p.PA656del|ELN_ENST00000380584.4_In_Frame_Del_p.PA575del|ELN_ENST00000358929.4_In_Frame_Del_p.PA691del|ELN_ENST00000380562.4_In_Frame_Del_p.PA629del|ELN_ENST00000380575.4_In_Frame_Del_p.PA594del|ELN_ENST00000414324.1_In_Frame_Del_p.PA599del|ELN_ENST00000380553.4_In_Frame_Del_p.PA487del|ELN_ENST00000380576.5_In_Frame_Del_p.PA604del|ELN_ENST00000458204.1_In_Frame_Del_p.PA613del|ELN_ENST00000320492.7_In_Frame_Del_p.PA542del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	685	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGCCGGACccgccgccgccgc	0.680			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						2	4	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110465003	110465003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr8:110465003delA	ENST00000378402.5	+	43	6668	c.6564delA	c.(6562-6564)ggfs	p.G2188fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2188	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATGGGGGGGAAAATCTCCCC	0.393										HNSCC(38;0.096)			2	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139400209	139400209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr9:139400209delC	ENST00000277541.6	-	25	4214	c.4139delG	c.(4138-4140)gcfs	p.G1380fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1380	EGF-like 35.				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)		GCATTCGGGGCCCGTGAAGGG	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	20	---	---	---	---					
SPSB2	84727	broad.mit.edu	37	12	6981827	6981851	+	Frame_Shift_Del	DEL	CCCCGGGCCCCATCAGTGCTCTGGG	CCCCGGGCCCCATCAGTGCTCTGGG	-	rs140296621	by1000genomes	TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr12:6981827_6981851delCCCCGGGCCCCATCAGTGCTCTGGG	ENST00000519357.1	-	2	401_425	c.215_239delCCCAGAGCACTGATGGGGCCCGGGG	c.(214-240)gtfs	p.AQSTDGARG72fs	SPSB2_ENST00000524270.1_Frame_Shift_Del_p.AQSTDGARG72fs|SPSB2_ENST00000523102.1_Frame_Shift_Del_p.AQSTDGARG72fs			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	72	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCCCTCTTACCCCGGGCCCCATCAGTGCTCTGGGCCACGGGCCG	0.671											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	79	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													7	188	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53403273	53403273	+	RNA	DEL	A	A	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr16:53403273delA	ENST00000565421.1	-	0	1344																											actccatctcaaaaaaaaaag	0.438													3	4	---	---	---	---					
LRP3	4037	broad.mit.edu	37	19	33698014	33698014	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:33698014delC	ENST00000253193.7	+	7	2048	c.1846delC	c.(1846-1848)ggfs	p.R616fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	616					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCACCGGCCGCGGGCGCCCCG	0.746													2	4	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36215897	36215903	+	Frame_Shift_Del	DEL	TGGCCCC	TGGCCCC	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr19:36215897_36215903delTGGCCCC	ENST00000420124.1	+	10	3437_3443	c.3437_3443delTGGCCCC	c.(3436-3444)ttfs	p.LAP1146fs	WBP7_ENST00000222270.7_Frame_Shift_Del_p.LAP1146fs|KMT2B_ENST00000607650.1_RNA																							CAGGATGCTTTGGCCCCTGGCCCCTTT	0.585													25	38	---	---	---	---					
EIF2S2	8894	broad.mit.edu	37	20	32677659	32677661	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:32677659_32677661delCTT	ENST00000374980.2	-	9	1098_1100	c.877_879delAAG	c.(877-879)del	p.K293del		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	293						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GTCGTGTGTCCTTCTGCAGGATT	0.488													20	61	---	---	---	---					
STMN3	50861	broad.mit.edu	37	20	62273563	62273565	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BB-7863-01A-11D-2229-08	TCGA-BB-7863-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bf356d5-1259-4042-9860-2f793f5fe32c	b93c12cc-bb24-4437-b373-3842d878e488	g.chr20:62273563_62273565delGTT	ENST00000370053.1	-	4	460_462	c.379_381delAAC	c.(379-381)del	p.N127del	STMN3_ENST00000540534.1_In_Frame_Del_p.N116del	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	127					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GGCGGCTGAAGTTGTTATTCTCC	0.670													8	18	---	---	---	---					
