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
KCNN2	3781	broad.mit.edu	37	5	113699700	113699700	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:113699700T>C	ENST00000512097.3	+	3	1600		c.e3+2		KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GAAATACAGGTAACTTAGGTC	0.493000													136	202					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46599923	46599923	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:46599923C>T	ENST00000398637.5	-	9	1280	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	196					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACCACCAGAACGCGGCCATCC	0.393000													5	165					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043807	71043807	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:71043807C>T	ENST00000272367.2	-	4	782	c.706G>A	c.(706-708)Gca>Aca	p.A236T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	236					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGGTATTTGCCGTTTCCAAA	0.423000													5	470					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054262	50054262	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:50054262G>A	ENST00000376042.1	+	6	3391	c.3093G>A	c.(3091-3093)ttG>ttA	p.L1031L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1031L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1031					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTGGCCTTACAAG	0.478000													7	639					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362824	40362824	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:40362824C>T	ENST00000221347.6	-	32	15253	c.15246G>A	c.(15244-15246)gcG>gcA	p.A5082A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5082						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACCCTTTTGCGCGCACAGGT	0.667000													5	558					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612000													10	227					1.33834e-09	1.41536e-09	1	1	0
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483000													5	153					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													24	220					0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													8	610					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													7	204					0	0	1	0	0
FAM86HP	0	broad.mit.edu	37	3	129821632	129821632	+	RNA	SNP	C	C	T	rs115468595	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:129821632C>T	ENST00000500074.2	-	0	513																											ACACCTGGCACGTCTCTGGGT	0.662000													7	489					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46894718	46894718	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:46894718G>A	ENST00000378623.1	-	30	4758	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1506					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGGACCTTCCGCTCAGAACCA	0.537000													126	250					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	587					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333000													5	89					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73528770	73528770	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:73528770G>A	ENST00000339362.5	+	9	1821	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T			Q92859	NEO1_HUMAN	neogenin 1	458	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.T458T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCAAATTGACGTGGCGGACAC	0.557000													200	311					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138701810	138701810	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:138701810G>C	ENST00000520602.1	-	10	1208	c.923C>G	c.(922-924)aCa>aGa	p.T308R	MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R|MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000370576.4_Missense_Mutation_p.T248R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	248					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TATAGTCCCTGTTACATCAGC	0.284000													99	256					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62232964	62232964	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:62232964T>C	ENST00000261517.5	-	47	5556	c.5483A>G	c.(5482-5484)aAt>aGt	p.N1828S	VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1828					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCAATGTCATTTTGTGGCAA	0.333000													97	220					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													5	355					0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.306_splice	c.e2+1	p.T102_splice	DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652000													5	67					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:43318566G>A	ENST00000374518.4	+	20	3196	c.3132_splice	c.e20-1	p.G1045_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388000													7	543					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052717	177052717	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:177052717C>G	ENST00000393643.2	+	7	1178	c.926C>G	c.(925-927)tCt>tGt	p.S309C	WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000280190.4_Missense_Mutation_p.S333C|WDR17_ENST00000508596.1_Missense_Mutation_p.S309C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	333										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCAGTCCAATCTCCAACCAAA	0.348000													158	291					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			260	175					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													6	262					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													7	138					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													6	481					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231936963	231936963	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:231936963G>A	ENST00000308696.6	+	7	877	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ACTGGTAAAGGAAGACAACCT	0.348000													32	594					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676777	100676777	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:100676777C>T	ENST00000306151.4	+	3	2144	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	694	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P694S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAAGTATGCCTGTCAACAC	0.493000													7	1947					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	RNA	SNP	C	C	T	rs28435564		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:11420458C>T	ENST00000381842.3	-	0	642				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612000													61	181					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													11	928					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667682	65667682	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:65667682G>A	ENST00000327987.4	-	2	413	c.162C>T	c.(160-162)gtC>gtT	p.V54V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	54	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTGCCCGGGGACGGCAACAT	0.577000													56	80					0	0	1	0	0
THAP7-AS1	0	broad.mit.edu	37	22	21363349	21363349	+	RNA	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:21363349A>G	ENST00000452284.1	+	0	1016				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						TATGGCACCAAGTTGGTTTGG	0.582000													5	179					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588862	179588862	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:179588862C>G	ENST00000589042.1	-	73	21348	c.21124G>C	c.(21124-21126)Gtt>Ctt	p.V7042L	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6725L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6725	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGGAGGAACTGCTCGGTCT	0.408000													5	142					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236744	30236744	+	Missense_Mutation	SNP	G	G	A	rs151181148	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:30236744G>A	ENST00000378988.4	+	2	148	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	16							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGAAACGCCGCAAGGCCCGA	0.542000													4	165					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													15	652					0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99961945	99961945	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:99961945C>T	ENST00000389879.5	+	4	513	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CCNK_ENST00000555049.1_Silent_p.G130G|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	130					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TACAATTTGGCCAGTTTGGAG	0.383000													6	524					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276945	71276945	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:71276945T>C	ENST00000398531.1	+	1	337	c.312T>C	c.(310-312)tgT>tgC	p.C104C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	104	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGGGGGGCTGTGGTTCTTGTG	0.677000													8	461					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78449379	78449379	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:78449379G>A	ENST00000306773.4	-	2	741	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	195					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTCTCCTCGGTGTCGTTCCT	0.652000													60	96					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514231	58514231	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:58514231G>A	ENST00000370996.3	-	1	1121	c.756C>T	c.(754-756)cgC>cgT	p.R252R	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	252	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGAAGTGCACGCGGGAGCCGA	0.677000													68	127					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			17	67					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													7	290					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													5	212					1.23904e-05	1.25613e-05	1	1	0
LILRA3	0	broad.mit.edu	37	19	54802498	54802498	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:54802498C>T	ENST00000391745.1	-	9	1310	c.994G>A	c.(994-996)Gac>Aac	p.D332N	LILRA3_ENST00000251390.3_Missense_Mutation_p.D315N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCAGGATGTCCAGGGGGTCG	0.672000													10	267					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													8	584					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672000													4	151					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058966	146058966	+	Silent	SNP	G	G	A	rs146975610	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:146058966G>A	ENST00000454497.2	-	21	2903	c.2766C>T	c.(2764-2766)agC>agT	p.S922S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.S987S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	986							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTCTTTCAGGCTTTGAATGG	0.453000													11	807					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													15	675					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116642	28116642	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:28116642G>A	ENST00000535992.1	-	3	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PTHLH_ENST00000545234.1_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	55					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AATCGTCGCCGTAAATCTTGG	0.468000													8	1538					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000													10	1275					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141015982	141015982	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:141015982G>A	ENST00000277549.5	+	47	6702	c.4133G>A	c.(4132-4134)cGc>cAc	p.R1378H	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2184H			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2184					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCCCCGGCCGCGGTGGGCGG	0.612000													44	104					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140209874	140209874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140209874C>T	ENST00000529310.1	+	1	2312	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCACGGCGGACAAG	0.692000													108	205					0	0	1	0	0
NBPF22P	0	broad.mit.edu	37	5	85578656	85578656	+	RNA	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:85578656C>T	ENST00000590707.1	+	0	379					NR_003719.2																						CCAGGAATTGCGCTCCCAGCT	0.512000													5	390					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460358	150460358	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:150460358T>C	ENST00000312960.3	-	2	1072	c.545A>G	c.(544-546)gAa>gGa	p.E182G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	182	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACAGCTTCCAGGGACCC	0.527000													159	255					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													7	443					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418000													6	341					3.59834e-05	3.62298e-05	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742345	42742345	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42742345G>A	ENST00000263805.4	-	2	2382	c.2056C>T	c.(2056-2058)Cat>Tat	p.H686Y	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TAAGATACATGAGATTTAATA	0.448000													234	441					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42914150	42914150	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:42914150C>T	ENST00000372565.3	-	3	681	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	138						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCTGGCCTCGGCCAACAGC	0.527000													27	30					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													6	425					5.9392e-07	6.10533e-07	1	1	0
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527000													8	1278					0.00448238	0.00448238	1	1	0
APCDD1	147495	broad.mit.edu	37	18	10472020	10472020	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:10472020C>T	ENST00000355285.4	+	3	1090	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	246					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GATGTTCTACCGGCCCTCCAG	0.537000													206	377					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248004939G>A	ENST00000355784.2	-	1	315	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGGCCCCAGGACAGCAGGTT	0.572000													62	91					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709985	164709985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:164709985G>A	ENST00000264382.3	-	43	5025	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1655	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCAAACCACCGAGCATTGGGG	0.343000										HNSCC(35;0.089)			284	587					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900345	151900345	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:151900345G>A	ENST00000393900.3	-	3	809	c.456C>T	c.(454-456)agC>agT	p.S152S	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S152S|MAGEA12_ENST00000357916.4_Silent_p.S152S	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	152	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGCTTTGCTGAAGATCA	0.532000													356	637					0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18306860	18306860	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:18306860G>A	ENST00000599612.2	+	5	716	c.616G>A	c.(616-618)Gac>Aac	p.D206N	MPV17L2_ENST00000534474.2_Missense_Mutation_p.R180K	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	206						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CACCCGAGCAGACTGAACTGT	0.607000													90	68					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49247297	49247297	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:49247297T>A	ENST00000406846.2	-	3	346	c.227A>T	c.(226-228)gAg>gTg	p.E76V	FSHR_ENST00000346173.3_Missense_Mutation_p.E76V|FSHR_ENST00000304421.4_Missense_Mutation_p.E76V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	76					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTGAGAGATCTCTCTGTGGAG	0.413000									Gonadal Dysgenesis, 46 XX				8	1228					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39175709	39175709	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:39175709G>A	ENST00000301819.6	+	21	2953	c.2775_splice	c.e21-1	p.V926_splice	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Splice_Site_p.V925_splice|TTC21A_ENST00000440121.1_Splice_Site_p.V877_splice	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	925							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTGTCCCAGGTGATGCTGGA	0.547000													397	369					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368000													5	290					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236649676	236649676	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:236649676G>C	ENST00000409538.1	+	4	1671	c.1175G>C	c.(1174-1176)gGc>gCc	p.G392A	AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A|AGAP1_ENST00000304032.7_Missense_Mutation_p.G127A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	127	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488000													76	160					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036708	62036708	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:62036708C>T	ENST00000435607.1	-	12	2012	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	646					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGATGCTGTCGAAGATATTC	0.547000													84	137					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													7	451					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													7	542					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								9	151					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	145					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507000													11	1371					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423013	26423013	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:26423013G>T	ENST00000335473.7	+	43	7323	c.7073G>T	c.(7072-7074)aGa>aTa	p.R2358I	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2359I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2358						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTAGAATCCAGACCGAGCATG	0.567000													161	164					2.32774e-83	2.59226e-83	1	1	0
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498000													265	563					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													12	808					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2115574	2115574	+	Missense_Mutation	SNP	G	G	A	rs137854159		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2115574G>A	ENST00000219476.3	+	16	2284	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	TSC2_ENST00000439673.2_Missense_Mutation_p.A515T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000353929.4_Missense_Mutation_p.A552T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	552					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.A552T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGATGTGGCCGCATACTCGGC	0.622000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	911					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100118509	100118509	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:100118509G>A	ENST00000372966.3	-	3	422	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372964.1_Missense_Mutation_p.R73C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	73	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGCAGATTGCGACACACAGGA	0.517000													69	152					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94040236	94040236	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:94040236T>C	ENST00000297268.6	+	22	1704	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	411					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)	CTGGAGCTGATGGCAGAGCTG	0.463000										HNSCC(75;0.22)			143	287					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368000													177	152					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123385147	123385147	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:123385147G>A	ENST00000360772.3	-	23	4128	c.3750C>T	c.(3748-3750)cgC>cgT	p.R1250R	MYLK_ENST00000360304.3_Silent_p.R1250R|MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000346322.5_Silent_p.R1181R|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000475616.1_Silent_p.R1250R			Q15746	MYLK_HUMAN	myosin light chain kinase	1250	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCTCCTGCGCGTACCTTCT	0.562000													92	164					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													5	182					2.7689e-08	2.88672e-08	1	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978218	45978218	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr21:45978218G>A	ENST00000391620.1	-	1	425	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CAGAgcagacgggcacacagc	0.657000													6	941					0	0	1	0	0
PCDHA12	0	broad.mit.edu	37	5	140257253	140257253	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140257253C>T	ENST00000398631.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCGGTGCGCGCCGGGCA	0.677000													72	127					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53265573	53265573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:53265573C>G	ENST00000566029.1	+	10	2597	c.2388C>G	c.(2386-2388)taC>taG	p.Y796*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Y796*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	796	Chromo 2.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATTTACTACTTAGTAAAAT	0.294000													31	73					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1																						CACCACTTCCAGGGAAGTGAA	0.527000													7	321					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920048	4920048	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:4920048C>T	ENST00000433855.1	+	1	1707	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KCNA6_ENST00000280684.3_Missense_Mutation_p.R281C	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	281						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCTCCTGGTGCGCTTCTCCGC	0.542000										HNSCC(72;0.22)			168	801					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384969	133384969	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:133384969G>A	ENST00000204726.3	-	5	1244	c.686C>T	c.(685-687)cCg>cTg	p.P229L	GOLGA3_ENST00000450791.2_Missense_Mutation_p.P229L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P229L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	229	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGATGTGCCGGAAGCCCCAG	0.512000													6	680					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													6	304					3.09899e-07	3.2081e-07	1	1	0
ATF4P4	0	broad.mit.edu	37	11	113661207	113661207	+	RNA	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:113661207G>A	ENST00000393544.2	+	0	1255																											AGGCTAAGGCGGGCTTCTCCG	0.542000													82	139					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93373	93373	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:93373C>T	ENST00000447903.2	-	4	1058	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGGGCATGCGACCCCTGAA	0.522000													5	506					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452493	10452493	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:10452493G>A	ENST00000397077.1	-	5	781	c.206C>T	c.(205-207)cCg>cTg	p.P69L	ATP2B2_ENST00000352432.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P69L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	69					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGCGGTGCCCGGCAAACCTGT	0.527000													6	630					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517000													110	254					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													4	72					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276932	71276932	+	Missense_Mutation	SNP	C	C	G	rs36179995		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:71276932C>G	ENST00000398531.1	+	1	324	c.299C>G	c.(298-300)tCc>tGc	p.S100C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	100	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTCCAAGGGGGGC	0.692000													7	464					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3562887	3562887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:3562887C>T	ENST00000262919.5	+	16	2718	c.2650C>T	c.(2650-2652)Ccg>Tcg	p.P884S	ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	884	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGTGGATGCCGTCTGAGCC	0.498000													5	431					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55087004	55087004	+	Missense_Mutation	SNP	G	G	A	rs145854955	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:55087004G>A	ENST00000251377.3	+	6	1070	c.937G>A	c.(937-939)Gac>Aac	p.D313N	LILRA2_ENST00000251376.3_Missense_Mutation_p.D313N|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D313N|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D301N|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCCCTGGACATCCTGAT	0.662000													6	284					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517819	70517819	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70517819C>T	ENST00000381269.2	-	6	2790	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000356921.2_Silent_p.T673T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000534137.1_Silent_p.T676T|SLC8A3_ENST00000394330.2_Silent_p.T36T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	679					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTGTCCACCGTAGTCTGTT	0.488000													93	83					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													5	295					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													8	727					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	321	---	---	---	---					
TNFRSF8	0	broad.mit.edu	37	1	12170175	12170176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:12170175_12170176insC	ENST00000263932.2	+	6	812_813	c.590_591insC	c.(589-591)gacfs	p.D197fs	TNFRSF8_ENST00000417814.2_Frame_Shift_Ins_p.D86fs	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	197					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAGAGGGGGCACCCGCCTCG	0.624													7	205	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													8	377	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													10	665	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													9	257	---	---	---	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)tafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								9	376	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													7	361	---	---	---	---					
RP11-435B5.3	0	broad.mit.edu	37	1	143375293	143375294	+	RNA	DEL	TT	TT	-	rs143007968		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:143375293_143375294delTT	ENST00000431621.1	+	0	523				RP11-435B5.4_ENST00000423249.1_lincRNA																							CCTATAGCAGtttttttttttt	0.371													7	66	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								7	659	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)del	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													18	1143	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152083468	152083469	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152083468_152083469insG	ENST00000368804.1	-	2	2223_2224	c.2224_2225insC	c.(2224-2226)ggafs	p.G742fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	742					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTCTCCCGGCGCCGCCTC	0.653													7	1232	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													16	1317	---	---	---	---					
LCE1F	353137	broad.mit.edu	37	1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	TGGCTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152749003_152749008delTGGCTC	ENST00000334371.2	+	1	156_161	c.156_161delTGGCTC	c.(154-162)tgc>tg	p.CGS52del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	52					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.680													10	480	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								8	508	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:169833511delT	ENST00000367772.4	-	9	1151	c.955_splice	c.e9+1	p.K318_splice	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													8	823	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													16	514	---	---	---	---					
PPP1R12B	4660	broad.mit.edu	37	1	202407189	202407190	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:202407189_202407190insT	ENST00000480184.1	+	10	1627_1628	c.1495_1496insT	c.(1495-1497)tttfs	p.F499fs	PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	499					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391													20	252	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													8	918	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													18	167	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													15	360	---	---	---	---					
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													7	1019	---	---	---	---					
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGATGAGGCGAAAAAAAAGGA	0.388													10	861	---	---	---	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													9	370	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													8	302	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													16	1272	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:113380090delT	ENST00000316407.4	-	7	849	c.439delA	c.(439-441)ttfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													7	550	---	---	---	---					
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)ctfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													7	1066	---	---	---	---					
FAM86JP	0	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													7	467	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)del	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													8	747	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3216905	3216907	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:3216905_3216907delGAG	ENST00000355072.5	+	51	7166_7168	c.7021_7023delGAG	c.(7021-7023)del	p.E2345del		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2345	Poly-Glu.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCATCAGCGAGGAGGAGGAGG	0.424													7	232	---	---	---	---					
UGDH	7358	broad.mit.edu	37	4	39515753	39515753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:39515753delA	ENST00000316423.6	-	3	556	c.214delT	c.(214-216)ctfs	p.S72fs	UGDH_ENST00000506179.1_Frame_Shift_Del_p.S72fs|UGDH_ENST00000501493.2_Frame_Shift_Del_p.S72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ATATTGGTAGAAAAAAAAAGA	0.299													8	1039	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													9	364	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													14	444	---	---	---	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	263	---	---	---	---					
RP11-689K5.3	0	broad.mit.edu	37	4	82682613	82682614	+	RNA	DEL	TC	TC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:82682613_82682614delTC	ENST00000510780.1	-	0	390																											AGTTAACCAGtctctctctctc	0.446													3	4	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114214679	114214681	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:114214679_114214681delCAC	ENST00000357077.4	+	22	2513_2515	c.2460_2462delCAC	c.(2458-2463)gtc>gt	p.VT820del	ANK2_ENST00000394537.3_In_Frame_Del_p.VT820del|ANK2_ENST00000264366.6_In_Frame_Del_p.VT820del|ANK2_ENST00000509550.1_In_Frame_Del_p.VT29del|ANK2_ENST00000506722.1_In_Frame_Del_p.VT799del	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	820					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGGAGGTCACCACCACCACC	0.468													7	291	---	---	---	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaa>ga	p.EE196del	HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													9	468	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:32089076delA	ENST00000438447.1	+	20	5910	c.5522delA	c.(5521-5523)cafs	p.Q1841fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1841					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.V1845fs*6(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTCAAGCCAAAAAAAGGGC	0.478													9	582	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													16	1227	---	---	---	---					
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(697-702)acaaaafs	p.TK233fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													7	565	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													11	1188	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:172578611delT	ENST00000231668.9	+	3	324	c.220delT	c.(220-222)ttfs	p.F76fs	BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													13	474	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													10	556	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													9	107	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													7	247	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411													9	518	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:127804080delT	ENST00000556132.1	-	5	2399	c.1535delA	c.(1534-1536)agfs	p.K512fs	SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	512						integral to membrane											CTGTTGAGCCTTTTTTTCAGA	0.294													7	582	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	283	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													7	54	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72662705	72662705	+	RNA	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:72662705delT	ENST00000425256.1	-	0	978					NR_002164.1																						CTTAGttttatttttttttaa	0.333													7	377	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													12	601	---	---	---	---					
CYP51A1	1595	broad.mit.edu	37	7	91743159	91743160	+	Splice_Site	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:91743159_91743160insA	ENST00000003100.8	-	10	1517		c.e10-2		LRRD1_ENST00000422722.1_Splice_Site|CYP51A1_ENST00000450723.1_Splice_Site	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1						cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GATGACGCCCTAAAAAAAAGAA	0.317													8	407	---	---	---	---					
DPY19L2P2	0	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													10	86	---	---	---	---					
TRBV7-8	0	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88																											accactctctcacacacacaca	0.455													7	330	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													7	621	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													20	599	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													7	741	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													8	1154	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 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)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			7	448	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			6	8	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ccfs	p.LA16fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			82	73	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													8	468	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gat>ga	p.ED273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													14	599	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)del	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													21	21	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													12	397	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	294	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:61828727_61828729delGTG	ENST00000280772.1	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)act>ac	p.TT3976del	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3976	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468													8	478	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													9	689	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													10	1122	---	---	---	---					
EPS8L2	64787	broad.mit.edu	37	11	723304	723305	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:723304_723305insC	ENST00000533256.1	+	16	1780_1781	c.1405_1406insC	c.(1405-1407)cccfs	p.P469fs	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Frame_Shift_Ins_p.P469fs|EPS8L2_ENST00000526198.1_Frame_Shift_Ins_p.P485fs|EPS8L2_ENST00000318562.8_Frame_Shift_Ins_p.P469fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	469						cytoplasm		p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGGG	0.584											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	494	---	---	---	---					
PNPLA2	57104	broad.mit.edu	37	11	823728	823729	+	Frame_Shift_Ins	INS	-	-	C	rs56152088	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:823728_823729insC	ENST00000336615.4	+	7	994_995	c.792_793insC	c.(790-795)ttccccfs	p.FP264fs	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	264					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGCGTTGCCCCCCGCCCG	0.678													16	52	---	---	---	---					
TSPAN4	0	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													7	593	---	---	---	---					
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991167	+	Splice_Site	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:2991166_2991167insA	ENST00000380542.4	-	7	543		c.e7-2		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGAT	0.416													7	326	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													10	696	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	700	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:19901475_19901477delAGC	ENST00000396085.1	+	5	933_935	c.572_574delAGC	c.(571-576)aag>a	p.KQ191del	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	191	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													8	557	---	---	---	---					
MUC15	143662	broad.mit.edu	37	11	26587427	26587427	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:26587427delT	ENST00000436318.2	-	2	193	c.60delA	c.(58-60)aafs	p.K20fs	MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289													9	298	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)cag>ca	p.HQ65del		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCGCGTGACTGGTGGTGGTGGT	0.660													7	409	---	---	---	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177151	67177152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:67177151_67177152insC	ENST00000312390.5	+	10	1296_1297	c.1267_1268insC	c.(1267-1269)ccgfs	p.P423fs	TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.P423fs|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	423	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGACTCGGGCCCGGGGCCCC	0.693													14	92	---	---	---	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aafs	p.K71fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACTGAAGATAAAAAAAAATG	0.403													16	402	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)cag>c	p.LQ386del	DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488													7	590	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				7	363	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													16	484	---	---	---	---					
CD69	969	broad.mit.edu	37	12	9907234	9907234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:9907234delT	ENST00000228434.3	-	4	520	c.440delA	c.(439-441)agfs	p.K147fs	CD69_ENST00000536709.1_Frame_Shift_Del_p.K147fs	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	147	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCAGGTTCCTTTTTCAGTCC	0.433													7	2570	---	---	---	---					
TAS2R50	259296	broad.mit.edu	37	12	11139431	11139432	+	Frame_Shift_Ins	INS	-	-	A	rs79147066		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:11139431_11139432insA	ENST00000506868.1	-	1	79_80	c.28_29insT	c.(28-30)aatfs	p.N10fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S10fs*3(2)|p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAATG	0.317													18	825	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)del	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCTATCAAGGAAGAAGAAGAAG	0.478													7	1010	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													11	1012	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	480	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	636	---	---	---	---					
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)tafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418													8	359	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	402	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													8	500	---	---	---	---					
IGHV4OR15-8	0	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175																											CCCTGGGGGCTGGCGGACCCAG	0.594													24	1351	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42003383_42003385delCAG	ENST00000219905.7	+	8	3101_3103	c.2920_2922delCAG	c.(2920-2922)del	p.Q981del	MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	981	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCGGCAGGCACAGCAGCAGCAGC	0.458													9	446	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)ccfs	p.S482fs	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTCCAGGGGAAAAAAAATTT	0.393													7	1224	---	---	---	---					
CGNL1	84952	broad.mit.edu	37	15	57744359	57744360	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:57744359_57744360delAG	ENST00000281282.5	+	6	2004_2005	c.1926_1927delAG	c.(1924-1929)gaagfs	p.EE642fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	642						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACATTAAAGAAGAGAGAGAGAG	0.441													7	315	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)aaafs	p.K1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347													15	378	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	135	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													9	35	---	---	---	---					
Z97634.5	0	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													14	172	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2260586_2260588delCAG	ENST00000328540.3	-	2	1231_1233	c.115_117delCTG	c.(115-117)del	p.L39del	BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGCcagcaccagcagcagcagc	0.660													7	177	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													13	366	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													10	674	---	---	---	---					
MYLK3	91807	broad.mit.edu	37	16	46744687	46744688	+	Frame_Shift_Ins	INS	-	-	A	rs150139689	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:46744687_46744688insA	ENST00000394809.4	-	11	2243_2244	c.2128_2129insT	c.(2128-2130)cccfs	p.P710fs	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.P369fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	710	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TAGAAATGGGGACAAGCCACTG	0.470													7	959	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	374	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)caa>ca	p.QQ3203del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.650													15	561	---	---	---	---					
RP11-150D5.2	0	broad.mit.edu	37	16	76268905	76268905	+	RNA	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:76268905delT	ENST00000568714.1	-	0	135																											ttttcttttctttttttttGC	0.418													8	239	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578199	7578200	+	Frame_Shift_Ins	INS	-	-	CC	rs35163653	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:7578199_7578200insCC	ENST00000420246.2	-	6	781_782	c.649_650insGG	c.(649-651)ggtfs	p.G217fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.G217fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G217fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G217fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G217fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G217fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	217	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in dbSNP:rs35163653).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAGGGCACCACCACACTATGT	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	80	---	---	---	---					
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	RNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.450													8	193	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													10	1331	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													27	867	---	---	---	---					
TBC1D3P2	0	broad.mit.edu	37	17	60344516	60344517	+	RNA	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:60344516_60344517insC	ENST00000581291.1	-	0	987_988																				breast(2)|kidney(1)|lung(2)	5						TAAAGGCGATTTTGTTATCGGC	0.599													7	1260	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													15	275	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48584730	48584730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:48584730delG	ENST00000342988.3	+	7	1346	c.808delG	c.(808-810)gafs	p.G270fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	270					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CACCTGGACTGGAAGTAGGAC	0.443													222	217	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)del	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													7	623	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													11	325	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)del	p.E306del	GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													8	326	---	---	---	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)del	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													7	214	---	---	---	---					
BCAS1	8537	broad.mit.edu	37	20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-	rs143209009		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)agfs	p.K206fs	BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552													8	1201	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)cccfs	p.P49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728													7	235	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	9	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													7	16	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38121788	38121789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:38121788_38121789insC	ENST00000406386.3	+	7	3480_3481	c.3225_3226insC	c.(3223-3228)tcccccfs	p.SP1075fs	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1075					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)					GGGCGTCCTCGCCCCCCCGCCA	0.653													8	310	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													19	12	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													8	491	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													10	252	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								7	656	---	---	---	---					
PJA1	64219	broad.mit.edu	37	X	68382257	68382257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:68382257delA	ENST00000361478.1	-	2	1202	c.825delT	c.(823-825)ttfs	p.F275fs	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Frame_Shift_Del_p.F220fs|PJA1_ENST00000374583.1_Frame_Shift_Del_p.F275fs|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	275							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATCAGTATCAAAAAAAATTT	0.493													7	616	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	212	---	---	---	---					
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:107430450delT	ENST00000394872.2	-	23	2061	c.1830delA	c.(1828-1830)aafs	p.K610fs	COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis				7	1199	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													8	1365	---	---	---	---