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
SPATA31D1	389763	broad.mit.edu	37	9	84608912	84608912	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:84608912C>T	ENST00000344803.2	+	4	3574	c.3527C>T	c.(3526-3528)gCa>gTa	p.A1176V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AATGTGAAAGCAAGCACTTCC	0.393000													15	33					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260439	6260439	+	Translation_Start_Site	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6260439G>A	ENST00000379936.2	+	1	118	c.3G>A	c.(1-3)atG>atA	p.M1I	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	1					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAACCATGAGCCAGGACA	0.577000													19	54					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61310292	61310292	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:61310292G>A	ENST00000402291.1	+	8	974	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	KIAA1841_ENST00000356719.2_Missense_Mutation_p.E245K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E245K|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.E245K	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	245										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTTTAGGTTGAACAGTGTAT	0.323000													35	93					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637000													24	79					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354478	57354478	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:57354478C>T	ENST00000314922.3	-	2	233	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.E53K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	53					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGTTTACCTTCACATTCCATT	0.423000													78	75					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38546327	38546327	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38546327G>C	ENST00000423485.1	-	34	4515	c.4357C>G	c.(4357-4359)Caa>Gaa	p.Q1453E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1453					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAGGCTTTTGAGAGACACCA	0.448000													15	25					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877714	106877714	+	RNA	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106877714G>C	ENST00000390619.2	-	0	329																											ATGGTGACTCGACTCTTGAGG	0.567000													64	369					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761274	74761274	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:74761274G>T	ENST00000264094.3	-	12	2100	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	LOXL3_ENST00000393937.2_Missense_Mutation_p.Q532K|LOXL3_ENST00000409249.1_Missense_Mutation_p.Q395K|LOXL3_ENST00000409549.1_Missense_Mutation_p.Q621K|LOXL3_ENST00000409986.1_Missense_Mutation_p.Q532K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	677	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCAATCCACTGACAGTCAATG	0.527000													31	56					7.01153e-11	7.27283e-11	1	1	0
CUL2	8453	broad.mit.edu	37	10	35360215	35360215	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:35360215C>G	ENST00000374748.1	-	3	344	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CUL2_ENST00000374751.3_Missense_Mutation_p.D11H|CUL2_ENST00000537177.1_Missense_Mutation_p.D30H|CUL2_ENST00000374746.1_Missense_Mutation_p.D11H|CUL2_ENST00000374742.1_Missense_Mutation_p.D11H|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374749.3_Missense_Mutation_p.D11H			Q13617	CUL2_HUMAN	cullin 2	11					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGTTTCATCAAAATCTACT	0.348000													32	64					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26722953	26722953	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:26722953G>C	ENST00000457710.3	+	8	2322	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000440501.1_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	651	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCTGCGGCAAGAACATTGTGC	0.537000													34	90					0	0	1	0	0
MED31	51003	broad.mit.edu	37	17	6553733	6553733	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6553733G>C	ENST00000225728.3	-	2	154	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	MED31_ENST00000575197.1_Missense_Mutation_p.R17G|MED31_ENST00000574128.1_5'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						AACTGAAACCGAAGTCGATTT	0.348000													79	199					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2443494	2443494	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:2443494C>G	ENST00000452833.1	-	2	183	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	TRPM5_ENST00000533060.1_Missense_Mutation_p.E59Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.E59Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E59Q			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	59						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTGCCACTCAGCAAGCAGC	0.662000													33	73					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161183707	161183707	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:161183707C>T	ENST00000392179.4	+	13	1589	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	NDUFS2_ENST00000367993.3_Silent_p.I450I|NDUFS2_ENST00000465923.1_3'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	450					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCGTTGCCATCATAGGTACGA	0.493000													49	140					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145582012	145582012	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:145582012C>G	ENST00000331890.5	-	1	160	c.96G>C	c.(94-96)ccG>ccC	p.P32P	FBXL6_ENST00000455319.2_Silent_p.P32P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	32	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGAGCCCCTCGGCGCCAGCC	0.776000													4	15					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49157043	49157043	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:49157043G>C	ENST00000262013.7	-	2	534	c.326C>G	c.(325-327)tCt>tGt	p.S109C	SPAG9_ENST00000505279.1_Missense_Mutation_p.S109C|SPAG9_ENST00000357122.4_Missense_Mutation_p.S109C|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	109					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTTCTTGAGAGTCTTCAAA	0.318000													33	102					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42397372	42397372	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42397372G>C	ENST00000599846.1	+	8	767	c.642G>C	c.(640-642)aaG>aaC	p.K214N	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.K181N|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.K214N|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.K229N|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.K196N			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	214	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACGAAGAAAAGAGGtgagggg	0.607000													10	20					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124105863	124105863	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:124105863C>T	ENST00000287380.1	+	5	642	c.552C>T	c.(550-552)ctC>ctT	p.L184L	TBC1D31_ENST00000378080.2_Silent_p.L79L|TBC1D31_ENST00000327098.5_Silent_p.L184L|TBC1D31_ENST00000522420.1_Silent_p.L79L|TBC1D31_ENST00000309336.3_Silent_p.L184L|TBC1D31_ENST00000521676.1_Silent_p.L79L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		ATACCATCCTCAGCTGTTTTA	0.318000													62	64					0	0	1	0	0
SIRT7	51547	broad.mit.edu	37	17	79872537	79872537	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79872537C>T	ENST00000328666.6	-	6	584	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	174	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCACTCCTCAGGTGGAGCC	0.642000													27	78					0	0	1	0	0
SCGB3A1	92304	broad.mit.edu	37	5	180017650	180017650	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:180017650C>T	ENST00000292641.3	-	2	318	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	81					negative regulation of cell growth|regulation of cell proliferation	extracellular space	cytokine activity			large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCCAGCTCAGCCACACAC	0.692000													5	5					0	0	1	0	0
CCDC124	115098	broad.mit.edu	37	19	18054452	18054452	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:18054452C>G	ENST00000597436.1	+	5	707	c.600C>G	c.(598-600)ctC>ctG	p.L200L	CCDC124_ENST00000445755.2_Silent_p.L200L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	200							DNA binding			central_nervous_system(1)|kidney(2)	3						AACAGCTGCTCAAGAAGGAGT	0.617000													14	36					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421169	1421169	+	Missense_Mutation	SNP	G	G	A	rs138300243		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1421169G>A	ENST00000308647.7	+	9	1030	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	305							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGTCAGCCGGCGGCTCCTC	0.647000													27	61					0	0	1	0	0
FOXD1	2297	broad.mit.edu	37	5	72743651	72743651	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:72743651G>A	ENST00000499003.3	-	1	701	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	179					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGCAGTCGTTGAGCGAGAGGT	0.632000													78	147					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7928439	7928439	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:7928439G>A	ENST00000270530.4	+	19	2432	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	EVI5L_ENST00000538904.2_Missense_Mutation_p.A757T	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	746						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGGCGTGGGCGCTGCCCTGCA	0.687000													3	10					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27522228	27522228	+	Missense_Mutation	SNP	G	G	A	rs149008031		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:27522228G>A	ENST00000296098.4	+	3	727	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TRIM54_ENST00000380075.2_Missense_Mutation_p.G153S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	153					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGTCTTCGGTGCCCACAA	0.542000													18	43					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2539047	2539047	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:2539047G>C	ENST00000574538.1	-	9	2146	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	457					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GCTGAAATTTGAGAACTTCAT	0.393000													66	106					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42754669	42754669	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:42754669G>C	ENST00000222329.4	-	2	228	c.71C>G	c.(70-72)tCa>tGa	p.S24*	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	24					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GATCTGCCTTGAGCCAGGGGA	0.637000													11	46					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49934893	49934893	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:49934893G>A	ENST00000257981.6	+	2	548	c.288G>A	c.(286-288)gaG>gaA	p.E96E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	96	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAAGGCTGAGCTGATCCTGT	0.637000													18	43					0	0	1	0	0
FBXO45	200933	broad.mit.edu	37	3	196311148	196311148	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:196311148G>A	ENST00000311630.6	+	3	1117	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	FBXO45_ENST00000440469.1_Missense_Mutation_p.E95K	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	274	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGCAACACAGAAGTGACTTT	0.443000													14	37					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524680	103524680	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:103524680C>G	ENST00000602836.1	+	21	4087	c.4087C>G	c.(4087-4089)Caa>Gaa	p.1363_1363insE	ERCC5_ENST00000375954.1_Silent_p.L170L|ERCC5_ENST00000355739.4_Silent_p.L937L	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AGGCCTACCTCAAACCCGTGG	0.448000													17	64					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159842151	159842151	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:159842151C>T	ENST00000297151.4	-	2	538	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	51					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAACTTCTGCAGGAGCA	0.348000													25	69					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000281	73000281	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:73000281C>T	ENST00000322038.5	+	2	3368	c.2784C>T	c.(2782-2784)aaC>aaT	p.N928N	TSHZ1_ENST00000580243.1_Silent_p.N973N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	973						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTTTTGCAACGATTGTGCCT	0.488000													31	43					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201757655	201757655	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:201757655G>A	ENST00000367296.4	+	10	3475	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.E1019K|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.E628K|NAV1_ENST00000295624.6_Missense_Mutation_p.E1019K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1019					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCACCCACGAGGCGGCCTT	0.637000													51	127					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818025	43818025	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:43818025G>A	ENST00000382031.1	+	5	5099	c.5068G>A	c.(5068-5070)Gag>Aag	p.E1690K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1452K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1452K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1452			A -> S (in dbSNP:rs1060946).			cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATTCCAGAAGAGAAAGACAA	0.453000													20	56					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482994	56482994	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:56482994G>C	ENST00000370765.6	-	23	5945	c.5838C>G	c.(5836-5838)ctC>ctG	p.L1946L	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1343					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTTCTCGAGTGGAGCCC	0.468000													26	64					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501416	71501416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:71501416C>T	ENST00000370455.3	+	5	687	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	147					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGCTCCTCTTCAGCCTTTGGT	0.403000													33	108					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201758022	201758022	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:201758022G>A	ENST00000409020.1	+	3	784	c.490G>A	c.(490-492)Gag>Aag	p.E164K	NIF3L1_ENST00000409588.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000409357.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000416651.1_Missense_Mutation_p.E164K|NIF3L1_ENST00000359683.4_Missense_Mutation_p.E137K			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	164					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CTACCCTACAGAGGGAAACCA	0.463000													51	106					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73568131	73568131	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73568131G>C	ENST00000392550.3	+	19	2563	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.E816Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.E816Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	816					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGTCGTATCAGAGGAGCAGTT	0.637000													10	18					0	0	1	0	0
ETV2	2116	broad.mit.edu	37	19	36134282	36134282	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:36134282C>T	ENST00000379026.2	+	4	865	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ETV2_ENST00000479824.1_Silent_p.L21L|ETV2_ENST00000403402.1_Silent_p.L114L|ETV2_ENST00000402764.2_Silent_p.L114L|ETV2_ENST00000379023.4_Intron			B9EIN1	B9EIN1_HUMAN	ets variant 2	114							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCCCCTCTCGGCCCGGGCC	0.756000													4	2					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44974659	44974659	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:44974659G>A	ENST00000296127.3	-	5	834	c.561C>T	c.(559-561)ctC>ctT	p.L187L	ZDHHC3_ENST00000342790.4_Silent_p.L221L|ZDHHC3_ENST00000424952.2_Silent_p.L187L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	187						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CCACCATGATGAGGGCGTGCA	0.517000													36	35					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507127	155507127	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:155507127G>A	ENST00000302053.3	-	5	1532	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	FGA_ENST00000403106.3_Missense_Mutation_p.S485F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	485					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCATCTTCGGAGGTCACCAC	0.502000													55	124					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498434	73498434	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:73498434C>T	ENST00000321617.3	-	18	3307	c.2721G>A	c.(2719-2721)ctG>ctA	p.L907L	CASKIN2_ENST00000433559.2_Silent_p.L825L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	907	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTTCACTCAGTGTTCGCC	0.721000													4	5					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134465	151134465	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:151134465C>G	ENST00000368908.5	-	2	952	c.292G>C	c.(292-294)Gac>Cac	p.D98H	LYSMD1_ENST00000440902.2_Missense_Mutation_p.D50H	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	98					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCAGAGTCCAAACCATTG	0.463000													34	94					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29116334	29116334	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:29116334C>G	ENST00000261590.8	+	11	1802	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	531					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTTCAGTTTCTCCGTCATTG	0.438000													32	51					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959456	27959456	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27959456G>A	ENST00000269033.3	-	15	2826	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	SSH2_ENST00000540801.1_Missense_Mutation_p.S919L|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	892					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGACAATGAGGTACATGT	0.517000													102	233					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88893002	88893002	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88893002G>C	ENST00000556553.1	+	6	1262	c.703G>C	c.(703-705)Gat>Cat	p.D235H	SPATA7_ENST00000045347.7_Missense_Mutation_p.D267H|SPATA7_ENST00000393545.4_Missense_Mutation_p.D267H|SPATA7_ENST00000356583.5_Missense_Mutation_p.D235H			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	267					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAGAAAAAAGGATTTTACAGA	0.353000													18	47					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074116	8074116	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:8074116G>A	ENST00000377482.5	-	4	766	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	181					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTAAAAGGAAGTCTGTAT	0.463000													25	72					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7055822	7055822	+	Translation_Start_Site	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:7055822G>A	ENST00000399448.1	+	0	83				PTPN6_ENST00000447931.2_De_novo_Start_InFrame	NM_080548.4	NP_536858.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACTGTGCACAGCTGTGCCGCT	0.652000													9	13					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6048638	6048638	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:6048638C>T	ENST00000265849.7	-	1	118	c.13G>A	c.(13-15)Gag>Aag	p.E5K	PMS2_ENST00000406569.3_Missense_Mutation_p.E5K|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000382321.4_Missense_Mutation_p.E5K	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	5					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCGAGCTCTCAGCTCGCTCC	0.652000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	120					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149769552	149769552	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:149769552C>T	ENST00000451292.1	+	20	3368	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1050L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1050L|TCOF1_ENST00000445265.2_Missense_Mutation_p.S973L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S973L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1087L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1050					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCGGATATCAGATGGCAAG	0.587000													12	25					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206590642	206590642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:206590642C>T	ENST00000360409.3	+	6	1617	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q276*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q276*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q276*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q276*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q276*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	276					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCAGACTTTCAGTGCAATGT	0.532000													36	79					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716673	74716673	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74716673G>A	ENST00000294064.4	+	3	1449	c.522G>A	c.(520-522)gtG>gtA	p.V174V	NEU3_ENST00000531509.1_Silent_p.V174V|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.V65V|NEU3_ENST00000544263.1_Silent_p.V141V|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	174										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGAGTGAGGTGAGGGACTTGA	0.567000													41	105					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291536	6291536	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:6291536C>T	ENST00000525462.1	+	3	625	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R124C|CCKBR_ENST00000334619.2_Missense_Mutation_p.R208C			P32239	GASR_HUMAN	cholecystokinin B receptor	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTGCGTGCATCGCTGGCCCAG	0.587000													37	100					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33342641	33342641	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:33342641G>A	ENST00000374796.2	-	9	4129	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S520L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	520	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTCCTGCTGAGAAGCCAGG	0.468000													28	55					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775451	24775451	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:24775451G>A	ENST00000221166.5	+	3	2865	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	NEFM_ENST00000437366.2_Missense_Mutation_p.E656K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E319K|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	695	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gtcaaaagcagaagtggggaa	0.448000													17	39					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92818541	92818541	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:92818541C>T	ENST00000440868.1	-	8	1417	c.1367G>A	c.(1366-1368)tGa>tAa	p.*456*	HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000341723.4_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATGTTTCTTCAGAATTTCAC	0.343000													18	42					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185350199	185350199	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:185350199C>T	ENST00000393593.3	-	2	227	c.20G>A	c.(19-21)cGc>cAc	p.R7H	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	7					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CGGGCGCATGCGCATCCTTTC	0.587000													17	37					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546882	24546882	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24546882C>T	ENST00000397016.2	+	17	1928	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	CPNE6_ENST00000537691.1_Silent_p.I594I|CPNE6_ENST00000216775.2_Silent_p.I539I			O95741	CPNE6_HUMAN	copine VI (neuronal)	539					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCAGGGCATCAGCCCTGGGG	0.667000													38	88					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40761330	40761330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40761330C>A	ENST00000309428.5	-	1	72	c.13G>T	c.(13-15)Gaa>Taa	p.E5*	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	5						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGAACCCCTTCGGCCTCAGCC	0.687000													15	43					3.41278e-10	3.53265e-10	1	1	0
COX14	84987	broad.mit.edu	37	12	50513924	50513924	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:50513924G>A	ENST00000550487.1	+	2	429	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	COX14_ENST00000550654.1_Missense_Mutation_p.R33Q|COX14_ENST00000548985.1_Missense_Mutation_p.R33Q|COX14_ENST00000317943.2_Missense_Mutation_p.R33Q|RP4-605O3.4_ENST00000552815.1_RNA	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	CL062_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	33						integral to membrane											TGCAGTGTCCGAGTCTACCAC	0.537000													33	55					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561412	55561412	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:55561412C>G	ENST00000436346.1	-	15	3386	c.2545G>C	c.(2545-2547)Gat>Cat	p.D849H	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D849H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D849H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D849H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	849					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATGTGGTATCTTTAATTTCT	0.313000													6	100					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159051943	159051943	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:159051943G>C	ENST00000296530.8	-	4	1968	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	FAM198B_ENST00000393807.5_Missense_Mutation_p.I457M|FAM198B_ENST00000585682.1_Missense_Mutation_p.I449M	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	449						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACTCTTTGATGCCTTCTA	0.348000													18	42					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1463797	1463797	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:1463797C>T	ENST00000308219.9	+	5	877	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BRSK2_ENST00000528841.1_Missense_Mutation_p.S164F|BRSK2_ENST00000526678.1_Missense_Mutation_p.S164F|BRSK2_ENST00000308230.5_Missense_Mutation_p.S164F|BRSK2_ENST00000382179.1_Missense_Mutation_p.S210F|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Missense_Mutation_p.S104F|BRSK2_ENST00000531197.1_Missense_Mutation_p.S164F	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	164	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATGGCGTCCCTGCAGGTT	0.627000													19	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428253	179428253	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179428253C>T	ENST00000589042.1	-	326	82830	c.82606G>A	c.(82606-82608)Gaa>Aaa	p.E27536K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25895K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18663K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24968K|TTN_ENST00000359218.5_Missense_Mutation_p.E18596K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18471K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25895	Fibronectin type-III 100.						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)			GAATGGCCTTCGGTAAGACCA	0.473000													67	116					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99338644	99338644	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:99338644G>A	ENST00000408927.3	+	9	1147	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296K|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297K|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346K|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	345							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATTTTGCCAGAAATGGTAAG	0.368000			T	NUP98	T-ALL								18	65					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022143	51022143	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:51022143A>G	ENST00000599957.1	-	3	1024	c.827T>C	c.(826-828)cTc>cCc	p.L276P	LRRC4B_ENST00000389201.3_Missense_Mutation_p.L276P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	276						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCGACTTGAGGTCGTCGAA	0.652000													4	146					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138362571	138362571	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:138362571C>T	ENST00000394817.2	-	6	703	c.564G>A	c.(562-564)ctG>ctA	p.L188L	SIL1_ENST00000509534.1_Silent_p.L195L|SIL1_ENST00000265195.5_Silent_p.L188L|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	188	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTTGTTGATCAGCCGTACCA	0.443000									Marinesco-Sjgren syndrome				32	81					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752119	2752119	+	Silent	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:2752119C>A	ENST00000312371.4	+	7	1472	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	368							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGAGCCCCTCACCCCTGATG	0.706000													12	36					0.00010058	0.000101799	1	1	0
NOVA2	4858	broad.mit.edu	37	19	46457193	46457193	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:46457193G>A	ENST00000263257.5	-	3	435	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	81	KH 1.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGGCATACCCGCTCTGTGGTT	0.537000													33	81					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768511	81768511	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:81768511C>G	ENST00000550584.2	-	10	1463	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	PPFIA2_ENST00000548586.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E237Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E372Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E390Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E291Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E316Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E372Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	316										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCAGCTAGCTCAAGACGTTCT	0.463000													14	56					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635386	118635386	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:118635386G>A	ENST00000360388.4	+	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	400					transport	integral to membrane		p.E400K(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCAGGAGACCGAAGAGGAGCC	0.557000													23	45					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733553	106733553	+	RNA	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106733553G>A	ENST00000390610.2	-	0	86																											CTGCCACCAAGAAGAGGATCC	0.577000													4	171					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68903925	68903925	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:68903925C>G	ENST00000262340.5	-	10	1126	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	358					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGGAGCCTTTCTGGCATTTTT	0.338000													23	59					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114967317	114967317	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:114967317G>C	ENST00000358465.2	-	10	1839	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	TRIM33_ENST00000369543.2_Missense_Mutation_p.Q586E|TRIM33_ENST00000450349.2_Missense_Mutation_p.Q194E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	586					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGGGCTTGAAAAGCTCCA	0.443000			T	RET	papillary thyroid								23	59					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583682	7583682	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:7583682C>T	ENST00000379802.3	+	24	6528	c.6187C>T	c.(6187-6189)Cgg>Tgg	p.R2063W	DSP_ENST00000418664.2_Missense_Mutation_p.R1464W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2063	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATCCCCATCGGAATGAGAA	0.483000													53	148					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086389	41086389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:41086389C>G	ENST00000291842.5	+	7	609	c.560C>G	c.(559-561)tCa>tGa	p.S187*	SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.S187*	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCACCCTCAGGTACGTTT	0.617000													21	49					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237159	43237159	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:43237159C>T	ENST00000327495.5	-	3	670	c.486G>A	c.(484-486)atG>atA	p.M162I	PSG3_ENST00000595140.1_Missense_Mutation_p.M162I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	162	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCACAGCCTCCATGTCCTCCC	0.537000													6	418					0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711580	138711580	+	Splice_Site	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:138711580C>G	ENST00000275766.1	-	4	772		c.e4-1			NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like											NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GATGAATTATCTACAAAGAGG	0.502000													16	31					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55575701	55575701	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:55575701G>C	ENST00000288135.5	+	7	1324	c.1227G>C	c.(1225-1227)gtG>gtC	p.V409V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	409	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTTATGTGAATAGTAAGT	0.373000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				28	74					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114251401	114251401	+	Splice_Site	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:114251401G>A	ENST00000357077.4	+	27	2953		c.e27-1		ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000509550.1_Splice_Site|ANK2_ENST00000506722.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						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)		TTAATTTTTAGTTTCCTGGTT	0.393000													14	19					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24497258	24497258	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:24497258G>C	ENST00000284224.8	-	6	574	c.297C>G	c.(295-297)ctC>ctG	p.L99L	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Silent_p.L99L|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	99					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAGAATTGAGTAGAAGAT	0.408000													82	218					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56975246	56975246	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:56975246G>A	ENST00000262031.5	+	7	781	c.686G>A	c.(685-687)gGa>gAa	p.G229E	RBMS2_ENST00000550726.1_Missense_Mutation_p.G104E|RBMS2_ENST00000542360.1_Missense_Mutation_p.G84E|RBMS2_ENST00000552247.2_Missense_Mutation_p.G229E	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	229					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAGAACCAAGGAAAATTTGTG	0.512000													14	38					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233398807	233398807	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:233398807C>G	ENST00000258229.8	-	2	490	c.256G>C	c.(256-258)Gac>Cac	p.D86H	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	86						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTCCTTTGTCAAACATGAGG	0.388000													23	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006375	9006375	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9006375G>C	ENST00000397910.4	-	45	39846	c.39643C>G	c.(39643-39645)Ctg>Gtg	p.L13215V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13217	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAATACAGAGGGCCAACA	0.527000													25	131					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702407	2702407	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:2702407G>A	ENST00000399655.1	+	19	2824	c.2559G>A	c.(2557-2559)atG>atA	p.M853I	CACNA1C_ENST00000399644.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M853I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M853I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M878I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M853I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M853I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M853I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	853					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCCAGAGATGCCTGTCGGCC	0.507000													9	17					0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153955285	153955285	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:153955285C>T	ENST00000368575.3	-	5	440		c.e5-1		RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGAGGCATTCTGGGGGCAAA	0.602000													13	36					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42693377	42693377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42693377G>A	ENST00000254250.3	-	3	600	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	124					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAGGGGTCTGAAGAGGCGGC	0.483000													65	136					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62558364	62558364	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62558364G>C	ENST00000307366.7	-	2	366	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	114						integral to membrane											GAGAAGAGAAGACCAGCACCG	0.597000													5	17					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35100058	35100058	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:35100058C>G	ENST00000356493.5	-	10	1107	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	STOML2_ENST00000452248.2_Missense_Mutation_p.E304Q	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	349						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGATCAAGTTCCTCATCAAGA	0.542000													58	130					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62358352	62358352	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:62358352G>A	ENST00000283268.3	-	2	486	c.192C>T	c.(190-192)ctC>ctT	p.L64L	FEZF2_ENST00000486811.1_Silent_p.L64L|FEZF2_ENST00000475839.1_Silent_p.L64L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	64					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCAGAGGTTGAGCAGTTTCT	0.637000													22	46					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904549	180904549	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:180904549C>A	ENST00000367588.4	+	5	1559	c.1504C>A	c.(1504-1506)Ccc>Acc	p.P502T	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P123T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	502										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAACGGGGCTCCCCGGCTCCG	0.741000													6	14					8.12818e-05	8.24336e-05	1	1	0
ZNF609	23060	broad.mit.edu	37	15	64972426	64972426	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64972426G>A	ENST00000326648.3	+	6	3940	c.3812G>A	c.(3811-3813)aGc>aAc	p.S1271N		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1271						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATATGGCAGCAAGGTCTCA	0.512000													4	128					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071203	9071203	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9071203C>T	ENST00000397910.4	-	3	16446	c.16243G>A	c.(16243-16245)Gcc>Acc	p.A5415T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5417	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A5415T(4)|p.A1048T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCATGGCGGCTTCTGTG	0.498000													6	657					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522183	97522183	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:97522183G>A	ENST00000375315.2	+	1	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K	C9orf3_ENST00000277198.2_Missense_Mutation_p.E40K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E40K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	40					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCAAGTCATTGAGGGGACCAT	0.458000													20	77					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938003	67938003	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:67938003G>A	ENST00000252336.6	+	5	1379	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	STARD8_ENST00000374599.3_Missense_Mutation_p.G416E|STARD8_ENST00000374597.3_Missense_Mutation_p.G336E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	336					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGGGGCCTGGAGATGAGGAA	0.577000													13	13					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247960	247960	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:247960C>T	ENST00000538872.1	+	4	1549	c.1431C>T	c.(1429-1431)caC>caT	p.H477H	IQSEC3_ENST00000326261.4_Silent_p.H477H|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.H174H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	477					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCGGCCCACAGCGGGACCC	0.746000													10	28					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84806171	84806171	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:84806171C>G	ENST00000219473.7	+	12	2136	c.2023C>G	c.(2023-2025)Ctg>Gtg	p.L675V	USP10_ENST00000570191.1_Missense_Mutation_p.L679V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	675					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGAGTGACTCTGGAAAAACT	0.473000													76	158					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781846	44781846	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:44781846G>A	ENST00000266534.3	+	8	1063	c.936G>A	c.(934-936)ttG>ttA	p.L312L	TMEM117_ENST00000536799.1_Silent_p.L208L|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Silent_p.*269*	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	312						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCCTCGTCTTGATTTTGGATC	0.338000													19	50					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10559926	10559926	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:10559926G>T	ENST00000381765.3	+	4	569	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	HPCAL1_ENST00000307845.3_Missense_Mutation_p.D15Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	15							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGTGCTGCAGGACCTGCGGGA	0.667000													21	54					1.64113e-05	1.66777e-05	1	1	0
RARA	5914	broad.mit.edu	37	17	38512358	38512358	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38512358G>A	ENST00000254066.5	+	9	1724	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Silent_p.L439L|RARA_ENST00000425707.3_Silent_p.L326L|RARA_ENST00000394089.2_Silent_p.L423L|RARA_ENST00000394081.3_Silent_p.L418L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	423					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGACACTCTGAGCGGACAGC	0.687000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								3	7					0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085501	73085501	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:73085501C>T	ENST00000324941.4	+	4	685	c.551C>T	c.(550-552)aCc>aTc	p.T184I	VPS37D_ENST00000451519.1_Missense_Mutation_p.T99I	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	184					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGGCCCCCACCTCGGCTGCT	0.741000													5	12					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127854968	127854968	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:127854968C>G	ENST00000508053.1	-	11	1600	c.626G>C	c.(625-627)aGa>aCa	p.R209T	FBN2_ENST00000508989.1_Missense_Mutation_p.R176T|FBN2_ENST00000262464.4_Missense_Mutation_p.R209T			P35556	FBN2_HUMAN	fibrillin 2	209					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTCTTACCTCTTTCACACTG	0.373000													20	50					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18354640	18354640	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:18354640G>C	ENST00000265963.4	+	2	179	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.E7Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	7					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCATCTGAAGAAGTTTTGCT	0.408000								Nucleotide excision repair (NER)					32	75					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857855	57857855	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:57857855G>A	ENST00000228682.2	+	3	265	c.174G>A	c.(172-174)gaG>gaA	p.E58E	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	58					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCAGAGAGACCAACAGCT	0.577000													54	168					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184348	55184348	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:55184348C>G	ENST00000337714.3	+	2	1756	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	AKAP1_ENST00000314126.3_Nonsense_Mutation_p.S508*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.S508*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.S508*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	508					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGACACTGCTCAGATTCTTTC	0.582000													54	158					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487662	31487662	+	Splice_Site	SNP	A	A	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:31487662A>C	ENST00000333137.7	+	11	1679	c.1459_splice	c.e11-1	p.E487_splice	SMTN_ENST00000347557.2_Splice_Site_p.E487_splice|SMTN_ENST00000358743.1_Splice_Site_p.E487_splice	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	487					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCACTCAGAACTGACACTGG	0.632000													17	40					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198570	233198570	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:233198570G>C	ENST00000325385.7	+	17	2307	c.2031G>C	c.(2029-2031)tcG>tcC	p.S677S	DIS3L2_ENST00000409307.1_Silent_p.S677S|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	677							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCTGCTCGGGGCTGCTGC	0.657000											OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	106					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268624	16268624	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16268624G>T	ENST00000375733.2	-	16	2511	c.2273C>A	c.(2272-2274)gCg>gAg	p.A758E	ZBTB17_ENST00000537142.1_Missense_Mutation_p.A669E|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A751E			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	751	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGAAGTCCGCGTCTGTCTG	0.642000													27	79					2.24059e-21	2.36324e-21	1	1	0
UBXN6	80700	broad.mit.edu	37	19	4452474	4452474	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:4452474C>T	ENST00000301281.6	-	4	452	c.328G>A	c.(328-330)Gag>Aag	p.E110K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E57K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	110						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGCCTTCCTCTCTGGGCTCA	0.657000													6	12					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346918	48346918	+	Silent	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:48346918G>T	ENST00000319856.4	+	1	447	c.426G>T	c.(424-426)gtG>gtT	p.V142V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGCTCACAGTGATGGCTTATG	0.498000													10	297					6.50621e-10	6.69325e-10	1	1	0
OR9K2	441639	broad.mit.edu	37	12	55524474	55524474	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:55524474T>A	ENST00000305377.5	+	1	1010	c.922T>A	c.(922-924)Ttg>Atg	p.L308M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACTCCCATGTTGAATCCTTT	0.358000													59	141					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967313	64967313	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:64967313G>C	ENST00000326648.3	+	4	2388	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	754						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTCGAGCAGAGGAAGGCAA	0.488000													37	120					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3086125	3086125	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:3086125G>C	ENST00000356443.4	-	30	4495	c.4162C>G	c.(4162-4164)Cat>Gat	p.H1388D	MYOM1_ENST00000261606.7_Missense_Mutation_p.H1292D|MYOM1_ENST00000400569.3_Missense_Mutation_p.H1388D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1388	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACACAATATGAGTCTCCTTC	0.353000													10	41					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409098	33409098	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409098G>C	ENST00000418600.2	+	12	2163	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E688Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E629Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	688					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTGGGCCGAGAGCTCTCCAC	0.552000													18	49					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409032	33409032	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33409032G>C	ENST00000418600.2	+	12	2097	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E666Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E607Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	666					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTTTTTGTATGAGATCTCCAA	0.498000													24	59					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909241	124909241	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:124909241G>A	ENST00000339992.3	+	2	681	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	142					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CGGCGGCGCTGAGCGGCAGGC	0.672000													9	10					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542190	75542190	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:75542190G>C	ENST00000372837.3	+	2	263	c.234G>C	c.(232-234)gcG>gcC	p.A78A	CHCHD1_ENST00000372833.5_Silent_p.A78A			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	78	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					ATTGTGCCGCGAGGGCTCAGG	0.537000													16	66					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135094861	135094861	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:135094861G>C	ENST00000368563.2	-	17	2845	c.2489C>G	c.(2488-2490)tCa>tGa	p.S830*	TUBGCP2_ENST00000368562.1_Nonsense_Mutation_p.S423*|TUBGCP2_ENST00000252936.3_Nonsense_Mutation_p.S830*|TUBGCP2_ENST00000417178.2_Nonsense_Mutation_p.S700*|TUBGCP2_ENST00000543663.1_Nonsense_Mutation_p.S858*	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	830					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CAGGTGGGCTGAGAAGTTCTT	0.617000													29	50					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149559392	149559392	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:149559392G>A	ENST00000223210.4	+	7	3388	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCATGAACCGAATCAGGACC	0.602000													3	37					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112579651	112579651	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:112579651C>T	ENST00000297145.4	-	1	320	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	52										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTACCTTCTCGGTACTTCTT	0.617000													19	60					0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133644119	133644119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:133644119G>A	ENST00000521755.1	-	3	158	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	CDKL3_ENST00000265334.4_Silent_p.V358V|CDKL3_ENST00000521118.1_Silent_p.V358V|CDKL3_ENST00000523054.1_Silent_p.V169V|CDKL3_ENST00000536186.1_Silent_p.V63V|CDKL3_ENST00000523832.1_Silent_p.V358V|CDKL3_ENST00000435240.2_Silent_p.V63V|CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Silent_p.V358V			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	372	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAACTCTGACTTTGATCT	0.348000													14	35					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630678	32630678	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:32630678C>G	ENST00000242310.4	-	1	4989	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1634					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.E1634K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATATCCTTCTCAAGTTGAGTC	0.448000													81	147					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226034852	226034852	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:226034852C>T	ENST00000366835.3	-	24	2583	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	771						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCTGCTGCTGCTGCTGCGGAG	0.622000													63	128					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33660555	33660555	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTTCTTCATCGTCATCATCA	0.537000													37	78					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118370622	118370622	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:118370622G>T	ENST00000534358.1	+	24	6175	c.6152G>T	c.(6151-6153)gGa>gTa	p.G2051V	KMT2A_ENST00000354520.4_Missense_Mutation_p.G2010V|KMT2A_ENST00000389506.5_Missense_Mutation_p.G2048V	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTTCCTATTGGATATCAGTAA	0.428000													25	83					4.22769e-11	4.39435e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179422404	179422404	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179422404G>A	ENST00000589042.1	-	328	87901	c.87677C>T	c.(87676-87678)tCa>tTa	p.S29226L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S27585L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20353L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26658L|TTN_ENST00000359218.5_Missense_Mutation_p.S20286L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20161L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27585	Fibronectin type-III 113.						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)			CACACAAGCTGAATCTATATG	0.383000													10	534					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599151	70599151	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:70599151G>C	ENST00000302516.5	+	19	2858	c.2647G>C	c.(2647-2649)Gaa>Caa	p.E883Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	883					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCAGCTGGAACAGAATGA	0.532000													25	65					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40263444	40263444	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:40263444C>G	ENST00000251642.3	-	4	462	c.240G>C	c.(238-240)ctG>ctC	p.L80L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	80	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCCACTCAGGGTTGTCA	0.612000													11	47					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953303	70953303	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:70953303C>G	ENST00000334414.6	-	18	4578	c.4534G>C	c.(4534-4536)Gag>Cag	p.E1512Q	PTPRB_ENST00000550857.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1424Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1204Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1204Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1294Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1511Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1294	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTGCAGCTCAAAGTCGTTG	0.498000													66	131					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494293	106494293	+	RNA	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106494293C>G	ENST00000390597.2	-	0	218																											GCAAGCCACTCCAGGGCCTTT	0.557000													33	87					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170028582	170028582	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:170028582G>A	ENST00000263816.3	-	58	11491	c.11206C>T	c.(11206-11208)Cgt>Tgt	p.R3736C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3736	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3736C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTGCCAACGAAGAGGGATG	0.468000													60	35					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38186220	38186220	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38186220C>T	ENST00000373048.4	-	13	2214	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	EPHA10_ENST00000330210.7_Missense_Mutation_p.E234K|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E739K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	739	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTGCCCCTCGTGCCGCTGT	0.632000													15	26					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199475	96199475	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:96199475C>G	ENST00000453304.1	-	4	877	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	UNC5C_ENST00000504962.1_Missense_Mutation_p.E177Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.E177K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGACACTTCCTTTCCTAGG	0.408000													23	58					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:202141586C>T	ENST00000358485.4	+	7	1070	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CASP8_ENST00000432109.2_Missense_Mutation_p.R233W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428000										HNSCC(4;0.00038)			45	32					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603802	10603802	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:10603802G>A	ENST00000334534.5	+	8	1182	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TCAGGGTTTTGCCAGCTTCAG	0.448000													59	105					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595604	93595604	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:93595604C>T	ENST00000329082.7	-	3	535	c.264G>A	c.(262-264)cgG>cgA	p.R88R	RGMA_ENST00000542321.2_Silent_p.R72R|RGMA_ENST00000425933.2_Silent_p.R72R|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.R72R|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000543599.1_Silent_p.R72R|RGMA_ENST00000557301.1_Silent_p.R96R	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	88					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCGGGCCGTCCGCCGCGTGC	0.682000													16	38					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924281	188924281	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:188924281C>G	ENST00000326866.4	+	4	728	c.320C>G	c.(319-321)tCt>tGt	p.S107C	ZFP42_ENST00000509524.1_Missense_Mutation_p.S107C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	107					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CAACAGCTTTCTCAAAAGGTT	0.408000													46	107					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561977	52561977	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:52561977C>G	ENST00000261839.7	-	8	1074	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Missense_Mutation_p.E248Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	305	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E305*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTTGAGTCTCTACCATTTCA	0.383000													59	117					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42183613	42183613	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:42183613G>C	ENST00000520810.1	+	20	2298	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.K702N|IKBKB_ENST00000416505.2_Missense_Mutation_p.K645N|IKBKB_ENST00000379708.3_Missense_Mutation_p.K481N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	704					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CAGCCAAGAAGAGGTAGGTCC	0.562000													29	48					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116094225	116094225	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:116094225T>C	ENST00000374193.4	-	3	324	c.78A>G	c.(76-78)aaA>aaG	p.K26K	WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_Silent_p.K26K|WDR31_ENST00000461942.1_Intron	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	26										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TGCTTTGCTGTTTCCCCATCA	0.478000													36	75					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64166960	64166960	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:64166960G>C	ENST00000395391.1	+	4	1653	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF107_ENST00000423627.1_Missense_Mutation_p.R93T|ZNF107_ENST00000344930.3_Missense_Mutation_p.R93T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCAAATAGATATAAGAGA	0.308000													24	53					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45553636	45553636	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553636G>A	ENST00000291577.6	+	1	150	c.57G>A	c.(55-57)acG>acA	p.T19T	C21orf33_ENST00000427803.2_Silent_p.T19T|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.T19T	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	19						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CTGCATTCACGTCCCTGTCCC	0.721000													3	11					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402323	248402323	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248402323C>T	ENST00000306687.1	+	1	93	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTTCTCTGGTCCTGGGCATCT	0.478000													43	96					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635459	6635459	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6635459C>G	ENST00000315579.5	+	20	3287	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.L785V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	830					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ACAGCCTTCTCTGGGCAAACG	0.562000													26	71					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27136926	27136926	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:27136926C>T	ENST00000354828.3	+	9	1491	c.964C>T	c.(964-966)Cta>Tta	p.L322L	GABPA_ENST00000400075.3_Silent_p.L322L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	322					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCAAATCCAACTATGGCAGTT	0.413000													39	98					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29745300	29745300	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:29745300C>T	ENST00000357586.2	-	11	1530	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I|AP1B1_ENST00000405198.1_Missense_Mutation_p.M448I|AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I|AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	448					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATCCAGATCATGGCAGCCC	0.587000													37	79					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45007842	45007842	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007842G>A	ENST00000558401.1	+	2	359	c.289G>A	c.(289-291)Gag>Aag	p.E97K	B2M_ENST00000544417.1_Missense_Mutation_p.E97K|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E97K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	97	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.E97K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGATGAGTATGCCTG	0.418000													77	143					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55253400	55253400	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55253400C>G	ENST00000371276.4	-	3	826	c.723G>C	c.(721-723)gaG>gaC	p.E241D	TTC22_ENST00000371274.4_Missense_Mutation_p.E241D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	241							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGCGGGGGTCCTCGGACTTCA	0.657000													8	21					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53303413C>T	ENST00000438150.2	-	2	2419	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H			P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413000													45	151					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145103932	145103932	+	RNA	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:145103932C>G	ENST00000453618.1	+	0	427							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCAACAGTATCAGAGTCAGGC	0.413000													3	37					0	0	1	0	0
PSME1	5720	broad.mit.edu	37	14	24606931	24606931	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24606931C>T	ENST00000382708.3	+	6	378	c.315C>T	c.(313-315)aaC>aaT	p.N105N	PSME1_ENST00000206451.6_Silent_p.N105N|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Silent_p.N105N|PSME1_ENST00000470718.1_3'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	105					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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GCCCAGTGAACTGCAATGAAA	0.522000													25	67					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68982070	68982070	+	Splice_Site	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68982070G>T	ENST00000288368.4	+	13	1721	c.1443_splice	c.e13-1	p.G482_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	482					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTACGTAGGGTGTAAGATT	0.303000													24	145					1.42536e-11	1.48462e-11	1	1	0
PRR7	80758	broad.mit.edu	37	5	176882799	176882799	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:176882799G>A	ENST00000323249.3	+	4	992	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PRR7_ENST00000510492.1_Missense_Mutation_p.E168K|PRR7_ENST00000502922.1_Missense_Mutation_p.E168K	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	168	Pro-rich.					cell junction|integral to membrane|postsynaptic membrane						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTATAGCGAGGTGCTCAC	0.667000													10	22					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156555792	156555792	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:156555792C>T	ENST00000368236.3	+	10	1658	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.A541V	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	541							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCAGAGCGGAGTACCCT	0.537000													5	12					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220347553	220347553	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:220347553C>T	ENST00000312358.7	+	29	5745	c.5613C>T	c.(5611-5613)ttC>ttT	p.F1871F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1871					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAAGCTATTCCTCTCCCGGC	0.592000													17	30					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603149	17603149	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597000													31	75					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65988155	65988155	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:65988155G>C	ENST00000449250.2	-	3	357	c.168C>G	c.(166-168)ctC>ctG	p.L56L	C17orf58_ENST00000536693.1_3'UTR|C17orf58_ENST00000334461.7_3'UTR			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	56										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCAGGACCTGGAGCAGAGCTG	0.502000													28	114					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206813	103206813	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:103206813C>T	ENST00000428762.1	-	33	4953	c.4794G>A	c.(4792-4794)atG>atA	p.M1598I	RELN_ENST00000343529.5_Missense_Mutation_p.M1598I|RELN_ENST00000424685.2_Missense_Mutation_p.M1598I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1598					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTCATTCATTCCTATAA	0.393000													30	95					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910596C>T	ENST00000397367.2	-	3	313	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323000													31	82					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30611428	30611428	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:30611428G>C	ENST00000358107.4	-	7	1500	c.1501C>G	c.(1501-1503)Cct>Gct	p.P501A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.P371A			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	371					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATGCACCAGGAATACTACTT	0.428000													31	58					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28216919	28216919	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:28216919C>T	ENST00000284984.2	-	1	809	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	119					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCGCCAGGTCGGTTTCCGGA	0.682000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31202864	31202864	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:31202864C>G	ENST00000362065.4	+	4	1714	c.1423C>G	c.(1423-1425)Cct>Gct	p.P475A	FAN1_ENST00000561607.1_Missense_Mutation_p.P475A|FAN1_ENST00000561594.1_Missense_Mutation_p.P475A|FAN1_ENST00000565466.1_Missense_Mutation_p.P475A	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	475					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCTTTCTGCTCCTGAACTAAA	0.393000								Direct reversal of damage					24	86					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986450	47986450	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:47986450G>C	ENST00000338134.3	-	4	524	c.417C>G	c.(415-417)ctC>ctG	p.L139L	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	139					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GAGTGAACTGGAGCTCCAGGT	0.612000													73	196					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38134169	38134169	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:38134169G>A	ENST00000351218.2	-	5	789	c.232C>T	c.(232-234)Cta>Tta	p.L78L	ZFP30_ENST00000392144.1_Silent_p.L78L|ZFP30_ENST00000589018.1_Silent_p.L77L|ZFP30_ENST00000514101.2_Silent_p.L78L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTACCTAGAGTCCATCTT	0.478000													92	241					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32545761	32545761	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32545761C>G	ENST00000382097.3	-	8	733	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	221										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCATATCTCTCCTTTGCCTGC	0.343000													17	26					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24995838	24995838	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:24995838C>T	ENST00000323848.9	+	14	2279	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S667L|SRRM1_ENST00000374389.4_Missense_Mutation_p.S664L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	655	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			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)		CGTTCACCTTCATTATCATCC	0.557000													33	46					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111745029	111745029	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111745029G>A	ENST00000261726.6	+	12	1231	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGCCCAGTCTGACTATG	0.572000													24	32					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295105	62295105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62295105C>A	ENST00000378024.4	-	5	7058	c.6784G>T	c.(6784-6786)Gaa>Taa	p.E2262*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2262					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)				ACATCCACTTCTGGGCCCTCT	0.532000													216	517					1.95632e-99	2.10778e-99	1	1	0
DVL1	1855	broad.mit.edu	37	1	1275804	1275804	+	Missense_Mutation	SNP	G	G	A	rs144365982	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1275804G>A	ENST00000378888.5	-	6	969	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	DVL1_ENST00000378891.5_Missense_Mutation_p.R229W			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	229					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGCCTGCCGAAGGCGCTGC	0.677000													7	14					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375932	2375932	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2375932C>A	ENST00000202625.2	+	3	335	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	TGM6_ENST00000381423.1_Missense_Mutation_p.Q92K|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	92					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGGAGGCTCAGATGGAGAA	0.612000													20	36					5.35267e-07	5.47283e-07	1	1	0
IPO11	51194	broad.mit.edu	37	5	61745762	61745762	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:61745762C>T	ENST00000325324.6	+	4	417	c.248C>T	c.(247-249)tCa>tTa	p.S83L	IPO11_ENST00000409296.3_Missense_Mutation_p.S123L|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	83	Importin N-terminal.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGTGCTCTCTCAGAGGAGGAG	0.323000													19	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417290	179417290	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:179417290C>T	ENST00000589042.1	-	335	90561	c.90337G>A	c.(90337-90339)Gat>Aat	p.D30113N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28472N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21240N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27545N|TTN_ENST00000359218.5_Missense_Mutation_p.D21173N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21048N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28472	Fibronectin type-III 119.						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)			GTGACAGGATCACTCAGTCCT	0.438000													26	57					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454378	35454378	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I|PAMR1_ENST00000278360.3_Silent_p.I580I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547000													14	58					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201814348	201814348	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:201814348G>C	ENST00000234296.2	-	5	506	c.257C>G	c.(256-258)tCt>tGt	p.S86C	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	86					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ACCTGTAGCAGAGCCATTTTT	0.259000													13	70					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077661	95077661	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:95077661C>T	ENST00000545558.1	-	7	1738	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NOL8_ENST00000542053.1_Missense_Mutation_p.E348K|NOL8_ENST00000535387.1_Missense_Mutation_p.E416K|NOL8_ENST00000442668.2_Missense_Mutation_p.E416K|NOL8_ENST00000358855.4_Missense_Mutation_p.E348K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	416					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACAGTTTTCTCTATTTTTG	0.308000													12	29					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116558226	116558226	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116558226G>A	ENST00000319550.4	+	9	982	c.900G>A	c.(898-900)atG>atA	p.M300I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	300							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TGAAGAAAATGACTGGCAAAC	0.493000													14	41					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122168493	122168493	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:122168493G>C	ENST00000344337.6	-	9	1021	c.845C>G	c.(844-846)tCa>tGa	p.S282*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	282	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GGGTCCATCTGATAGATATGA	0.448000													31	74					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44928826	44928826	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:44928826G>A	ENST00000377967.4	+	17	1967	c.1926G>A	c.(1924-1926)ggG>ggA	p.G642G	KDM6A_ENST00000543216.1_Silent_p.G563G|KDM6A_ENST00000536777.1_Silent_p.G597G|KDM6A_ENST00000382899.4_Silent_p.G649G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	642					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTTTTAGGGGCTTCACAAAG	0.383000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	16					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38047889	38047889	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38047889G>C	ENST00000373062.3	-	8	942	c.844C>G	c.(844-846)Cat>Gat	p.H282D		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	282					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGGCTTGCATGGAAAGCAAGT	0.448000													15	37					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567788	76567788	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76567788C>T	ENST00000389840.5	-	4	740	c.616G>A	c.(616-618)Gat>Aat	p.D206N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D206N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCACATCCCGGATCTGG	0.597000													34	77					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152384626	152384626	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:152384626G>A	ENST00000271835.3	-	2	146	c.84C>T	c.(82-84)ctC>ctT	p.L28L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	28					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTCGGGTGAGCGCTGTGC	0.547000													42	92					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531996	140531996	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140531996G>T	ENST00000231136.1	+	1	2158	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V584L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCCTCGGTGGGTCGCTA	0.647000													84	242					3.59392e-34	3.83914e-34	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541412	55541412	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:55541412G>C	ENST00000361760.1	+	1	499	c.499G>C	c.(499-501)Gac>Cac	p.D167H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTCTTGACTTATCGTT	0.423000													48	127					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301273	191301273	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:191301273G>A	ENST00000392328.1	+	3	842	c.518G>A	c.(517-519)aGt>aAt	p.S173N	MFSD6_ENST00000281416.7_Missense_Mutation_p.S173N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	173					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAATGCAAGTCACCAGTTA	0.428000													33	73					0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124626548	124626548	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124626548C>G	ENST00000278927.5	-	3	469	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	114	Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		TGGAGACCCTCCAGCCGCAGG	0.542000													34	92					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487533	108487533	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:108487533G>T	ENST00000408999.3	+	20	3150	c.3073G>T	c.(3073-3075)Gat>Tat	p.D1025Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1025Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1025					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAGAAAGATGATGATGCCTA	0.383000													139	346					3.27855e-105	3.53999e-105	1	1	0
TMEM104	54868	broad.mit.edu	37	17	72832685	72832685	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:72832685G>A	ENST00000335464.5	+	10	1512	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.Q450Q|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	450						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGACACCCAGCTGGCCTTTG	0.632000													19	58					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38632026	38632026	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:38632026C>G	ENST00000299084.4	+	5	1372	c.512C>G	c.(511-513)tCa>tGa	p.S171*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	171					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATAGAAGCTCAAATATAAGA	0.408000									Legius syndrome				31	69					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26373231	26373231	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373231G>A	ENST00000356386.2	+	6	1010	c.822G>A	c.(820-822)caG>caA	p.Q274Q	BTN3A2_ENST00000396948.1_Silent_p.Q274Q|BTN3A2_ENST00000396934.3_Silent_p.Q251Q|BTN3A2_ENST00000377708.2_Silent_p.Q274Q|BTN3A2_ENST00000508906.2_Silent_p.Q232Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Silent_p.Q274Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	274						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGAGACAACAGAAGGAAATAA	0.522000													34	97					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770295	90770295	+	Splice_Site	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90770295G>C	ENST00000355740.2	+	5	663		c.e5-1		FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000355279.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor						activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTTTTCTAGATGTGAACAT	0.348000													17	39					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929088	32929088	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:32929088C>T	ENST00000361627.3	+	12	2836	c.2114C>T	c.(2113-2115)tCa>tTa	p.S705L	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S516L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S516L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	705					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACATTCATTCAAATATGCCA	0.299000													18	40					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32815823	32815823	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:32815823C>G	ENST00000354258.4	-	8	1954	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G337A	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	598	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCCATTGGGTCCCACCAGCGC	0.612000													13	31					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				9	159					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38520908	38520908	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:38520908G>A	ENST00000399017.2	+	23	4826	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Silent_p.K383K|TTC3_ENST00000355666.1_Silent_p.K693K|TTC3_ENST00000354749.2_Silent_p.K693K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	693					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGCTGGAAGAAGTTAAAAA	0.299000													30	82					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37310127	37310127	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:37310127T>A	ENST00000356725.4	-	5	1239	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATAAAGGCTTTTCCACATT	0.398000													45	80					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133626	22133626	+	Silent	SNP	C	C	T	rs118047831	by1000genomes	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:22133626C>T	ENST00000408935.1	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTGCCTGTGCCGAGATCTTTC	0.458000													82	220					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38451700	38451700	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:38451700T>C	ENST00000209728.4	+	8	1647	c.1176T>C	c.(1174-1176)gaT>gaC	p.D392D		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	392					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AAGCACTGGATGTTTGCAGGT	0.398000													53	114					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35909972	35909972	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35909972C>G	ENST00000397367.2	-	4	647	c.521G>C	c.(520-522)gGa>gCa	p.G174A	CAPSL_ENST00000514524.1_Missense_Mutation_p.G174A|CAPSL_ENST00000397366.1_Missense_Mutation_p.G174A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	174	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ACTTACCAATCCATCTTTGTC	0.353000													48	108					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637805	33637805	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:33637805G>A	ENST00000504830.1	-	12	2100	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R589C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	589	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGCACAAGCGATAGCGTTTT	0.458000										HNSCC(64;0.19)			29	85					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266389	124266389	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:124266389G>C	ENST00000354597.3	-	1	875	c.859C>G	c.(859-861)Ctc>Gtc	p.L287V		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGTAGATGAGAGGATTGAGC	0.363000													58	114					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82642834	82642834	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:82642834G>A	ENST00000533655.1	+	6	666	c.454G>A	c.(454-456)Gac>Aac	p.D152N	C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.D152N|C11orf82_ENST00000528759.1_Silent_p.L58L|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.D152N|C11orf82_ENST00000525388.1_Silent_p.L112L|C11orf82_ENST00000524921.1_Silent_p.L112L	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	152					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCAATGCTCTGACCACAAAAG	0.388000													40	106					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74559187	74559187	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:74559187C>T	ENST00000340360.6	-	15	2008	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	XRRA1_ENST00000527087.1_Silent_p.K472K|XRRA1_ENST00000321448.8_Silent_p.K284K	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	559					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACTCTGTGCTCTTGGAGTCCT	0.577000													12	23					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72543224	72543224	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:72543224C>T	ENST00000569795.1	-	18	2067	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	PARP6_ENST00000413097.2_Intron|PARP6_ENST00000260376.7_Silent_p.R460R|PARP6_ENST00000287196.9_Silent_p.R460R			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	460	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCTTGGCGGTCCGGAACCGAG	0.637000													10	18					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5235282	5235282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:5235282C>T	ENST00000262477.6	+	3	426	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	RABEP1_ENST00000341923.6_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.Q68*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.Q25*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.Q68*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	68					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAGCTGCACAAGATGATTT	0.433000													37	69					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197600	65197600	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65197600C>T	ENST00000247226.7	+	4	790	c.482C>T	c.(481-483)tCg>tTg	p.S161L	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S217L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	217	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTACAGCACTCGCTGCCCTTG	0.647000													20	31					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52360866	52360866	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:52360866C>T	ENST00000296585.5	+	14	1870	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	576					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTGTTGGTTCACCACTAGAA	0.433000													58	114					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509932	187509932	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562000										HNSCC(5;0.00058)			26	55					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607043	21607043	+	Nonsense_Mutation	SNP	C	C	T	rs150051672		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:21607043C>T	ENST00000392288.2	+	4	1691	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	ZNF493_ENST00000355504.4_Nonsense_Mutation_p.R400*|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGCTTTTAAACGATCTTCAAC	0.353000													26	64					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6620209	6620209	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:6620209G>A	ENST00000321612.6	-	3	595	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	149					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTAAGTTCCGCAAAATCGTC	0.438000													5	126					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976735	30976735	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30976735G>A	ENST00000262519.8	+	7	2358	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	558	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGGAGCGGGGAGCCAGGGGC	0.637000													53	126					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65216069	65216069	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:65216069C>A	ENST00000389722.3	-	35	6995	c.6942G>T	c.(6940-6942)aaG>aaT	p.K2314N	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.K2314N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTGTCTTTCTTGCCGAGGC	0.662000													9	25					0.000442599	0.000447061	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71725139	71725139	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71725139T>G	ENST00000393695.3	-	15	3741	c.3410A>C	c.(3409-3411)cAg>cCg	p.Q1137P	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q1137P	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1137					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCTGCTTCTGGCATTGCTG	0.662000			T	RARA	APL								29	91					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530273	245530273	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:245530273G>T	ENST00000407071.2	+	3	1043	c.603G>T	c.(601-603)atG>atT	p.M201I	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	201					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATCCAGATGGTGCTGACGT	0.647000													12	44					9.05144e-12	9.44744e-12	1	1	0
NUAK2	81788	broad.mit.edu	37	1	205275416	205275416	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:205275416G>C	ENST00000367157.3	-	5	716	c.590C>G	c.(589-591)tCc>tGc	p.S197C		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	197	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTAGAGGTTGGAGAGACCGAA	0.557000													31	93					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90768721	90768721	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:90768721C>G	ENST00000355740.2	+	4	630	c.410C>G	c.(409-411)tCt>tGt	p.S137C	FAS_ENST00000352159.4_Missense_Mutation_p.S137C|FAS_ENST00000357339.2_Missense_Mutation_p.S137C|FAS_ENST00000355279.2_Missense_Mutation_p.S137C|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	137					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTGTAACTCTACTGTATGT	0.363000													237	563					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11126794	11126794	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11126794T>C	ENST00000376936.4	-	25	2688	c.2639A>G	c.(2638-2640)tAc>tGc	p.Y880C	EXOSC10_ENST00000304457.7_Missense_Mutation_p.Y855C|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	880					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGCCAGTTGTACCTGAAGCC	0.443000													38	78					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319250	70319250	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:70319250C>T	ENST00000338508.4	-	33	5276	c.5277G>A	c.(5275-5277)gcG>gcA	p.A1759A	SHANK2_ENST00000449833.2_Silent_p.A1163A|SHANK2_ENST00000423696.2_Silent_p.A1379A|SHANK2_ENST00000409161.1_Silent_p.A1162A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1379					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TACTGCGTCCCGCTGGGTTCA	0.547000													41	84					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26373256	26373256	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26373256G>C	ENST00000356386.2	+	6	1035	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	BTN3A2_ENST00000396948.1_Missense_Mutation_p.E283Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.E260Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.E283Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.E241Q|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.E283Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	283						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCTGTCCAGTGAGATAGAAAG	0.498000													31	88					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25102257	25102257	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:25102257C>T	ENST00000216341.4	-	2	173	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.G23R|GZMB_ENST00000415355.3_Missense_Mutation_p.G11R|GZMB_ENST00000526004.1_Missense_Mutation_p.G23R|GZMB_ENST00000382542.1_Missense_Mutation_p.G57R|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	23	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATGTCCCCCGATGATCTCC	0.562000													46	131					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37292899	37292899	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:37292899C>G	ENST00000361924.2	+	2	460	c.86C>G	c.(85-87)tCt>tGt	p.S29C	GOLGA4_ENST00000444882.1_Missense_Mutation_p.S29C|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S29C	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	29					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCTCCAATTCTTCAACACCA	0.393000													46	32					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094768	30094768	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:30094768G>C	ENST00000279387.7	+	6	525	c.357G>C	c.(355-357)caG>caC	p.Q119H	PPP4C_ENST00000561610.1_Missense_Mutation_p.Q119H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	119					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AGAGTCGCCAGATCACGCAGG	0.592000													26	78					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83827742	83827742	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:83827742C>T	ENST00000302236.5	+	3	593	c.542C>T	c.(541-543)tCt>tTt	p.S181F		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	181							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAACTACTTTCTGAAGAAACA	0.363000													35	78					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078587	117078587	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:117078587C>A	ENST00000457047.2	-	3	681	c.628_splice	c.e3+1	p.G210_splice	CD58_ENST00000369487.3_Splice_Site_p.G210_splice|CD58_ENST00000369489.5_Splice_Site_p.G210_splice	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	210					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTACTCACCGCTGCTTGGG	0.343000													33	100					2.51541e-25	2.66996e-25	1	1	0
CHD8	57680	broad.mit.edu	37	14	21870633	21870633	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:21870633C>G	ENST00000399982.2	-	18	3808	c.3744G>C	c.(3742-3744)caG>caC	p.Q1248H	CHD8_ENST00000430710.3_Missense_Mutation_p.Q969H|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.Q1248H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1248	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCTTTGCTCTGCCCAATTC	0.438000													17	51					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113701592	113701592	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:113701592C>T	ENST00000003302.4	-	9	975	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	USP28_ENST00000545540.1_Missense_Mutation_p.E178K|USP28_ENST00000260188.5_Missense_Mutation_p.E303K|USP28_ENST00000537706.1_Missense_Mutation_p.E303K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	303				VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039).	cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTTACCTTCACGAACCCCT	0.403000													47	102					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53612084	53612084	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:53612084T>C	ENST00000342160.3	-	39	5346	c.4889A>G	c.(4888-4890)tAc>tGc	p.Y1630C	HUWE1_ENST00000262854.6_Missense_Mutation_p.Y1630C|HUWE1_ENST00000218328.8_Missense_Mutation_p.Y1630C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1630	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTTGCACTGTAACTACACCA	0.443000													64	37					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162063	90162063	+	RNA	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:90162063C>T	ENST00000567960.1	+	0	799				TUBB8P7_ENST00000564451.1_RNA																							TGCATTTCTTCATGCCCGGCT	0.607000													18	33					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116565108	116565108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:116565108C>G	ENST00000319550.4	+	12	1371	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	430							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGATTCTCTTCAAGCAATTCA	0.343000													23	47					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69043430	69043430	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:69043430G>C	ENST00000295381.3	+	7	1233	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E233Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E265Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000544262.1_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E273Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	272	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGCTCAGCAGGAGTTGATGAA	0.488000													34	74					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95169456	95169456	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:95169456G>A	ENST00000371501.4	-	6	596	c.474C>T	c.(472-474)gaC>gaT	p.D158D	MYOF_ENST00000371489.1_Silent_p.D158D|MYOF_ENST00000358334.5_Silent_p.D158D|MYOF_ENST00000359263.4_Silent_p.D158D|MYOF_ENST00000371502.4_Silent_p.D158D			Q9NZM1	MYOF_HUMAN	myoferlin	158					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACTGCATTGTCCAACCTGT	0.537000													15	418					0	0	1	0	0
EXOSC3	51010	broad.mit.edu	37	9	37784017	37784017	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:37784017G>A	ENST00000327304.5	-	2	380	c.368C>T	c.(367-369)gCt>gTt	p.A123V	EXOSC3_ENST00000396521.3_Missense_Mutation_p.A123V|EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	123					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCCAGATTTAGCTGTCACTAT	0.368000													33	89					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36007002	36007002	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36007002G>A	ENST00000397326.2	-	2	445	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	MB_ENST00000401702.1_Missense_Mutation_p.H28Y|MB_ENST00000397328.1_Missense_Mutation_p.H83Y|MB_ENST00000359787.1_Missense_Mutation_p.H83Y|MB_ENST00000406324.1_Missense_Mutation_p.H83Y	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	83							heme binding|oxygen transporter activity			lung(1)	1						TCTGCCTCATGATGCCCCTTC	0.582000													36	47					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970216	101970216	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:101970216C>T	ENST00000543253.1	+	5	1338	c.419C>T	c.(418-420)tCa>tTa	p.S140L	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S140L|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S140L	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGCAGTGTCACAGGCAGAA	0.542000													86	55					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168262431	168262431	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:168262431G>A	ENST00000367821.3	+	3	569	c.518G>A	c.(517-519)cGt>cAt	p.R173H		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	173					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACATAGTGCGTGTTGGAAGT	0.473000													27	66					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52514222	52514222	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52514222C>T	ENST00000345716.4	+	13	1573	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	NISCH_ENST00000479054.1_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000420808.2_Missense_Mutation_p.S480L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	480	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCCGGCTCTCAGCTGCCCCC	0.632000													20	66					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51075949	51075949	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:51075949C>G	ENST00000376006.3	+	2	352	c.132C>G	c.(130-132)cgC>cgG	p.R44R	NUDT10_ENST00000356450.2_Silent_p.R44R	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	44	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					ACCCGGACCGCTGGATCGTGC	0.697000													14	9					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68178422	68178422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:68178422G>A	ENST00000262215.3	-	14	2331	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.Q102*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	648					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCATCTCTTGCTCTGAGGGT	0.353000													23	69					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3657786	3657786	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:3657786G>C	ENST00000356518.2	-	3	423	c.182C>G	c.(181-183)tCg>tGg	p.S61W	ADAM33_ENST00000350009.2_Missense_Mutation_p.S61W|ADAM33_ENST00000379861.4_Missense_Mutation_p.S61W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	61					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GTCTGGCTTCGAGACCTGGGC	0.642000													7	32					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769698	47769698	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:47769698C>G	ENST00000359568.5	+	8	1415	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	436	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTTGGAGTTCAAGTTCAAAG	0.453000													32	85					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716000													32	79					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878814	66878814	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:66878814C>G	ENST00000269080.2	-	28	3771	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1252Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1252Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1212						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCTCTCCTTCTGGTTCTTCT	0.343000													28	79					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939092	12939092	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:12939092G>A	ENST00000218032.6	+	2	2020	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	TLR8_ENST00000311912.5_Missense_Mutation_p.D663N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	645					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACACGTCTGGATTTATCCCT	0.368000													44	32					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61736513	61736513	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:61736513G>A	ENST00000423902.2	+	13	3795	c.3316G>A	c.(3316-3318)Gaa>Aaa	p.E1106K	CHD7_ENST00000525508.1_Missense_Mutation_p.E1106K|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1106	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTCATTGATGAAGCCCACAG	0.458000													43	164					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122966509	122966509	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:122966509G>C	ENST00000543897.1	-	7	2499	c.144C>G	c.(142-144)ttC>ttG	p.F48L	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.F286L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.F48L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	286						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCCTGGCTTGAATCTTCCAA	0.378000													20	31					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612946	48612946	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48612946G>A	ENST00000328333.8	-	73	6113	c.6006C>T	c.(6004-6006)cgC>cgT	p.R2002R	COL7A1_ENST00000454817.1_Silent_p.R1970R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2002	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTCAGCCCGCGTTCTCCAG	0.697000													34	20					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335074	64335074	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64335074C>G	ENST00000301891.4	+	7	1436	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F354L|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	354					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCGCAGTTTCTCTCTATTGA	0.632000													67	142					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1687999	1687999	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:1687999T>A	ENST00000344463.4	-	7	1098	c.877A>T	c.(877-879)Atc>Ttc	p.I293F	NADK_ENST00000342348.5_Missense_Mutation_p.I116F|NADK_ENST00000341991.3_Missense_Mutation_p.I148F|NADK_ENST00000378625.1_Missense_Mutation_p.I293F|NADK_ENST00000341426.5_Missense_Mutation_p.I148F			O95544	NADK_HUMAN	NAD kinase	148					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCGCTGGCGATGGCAGGGTCT	0.517000													30	63					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121106	21121106	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:21121106C>T	ENST00000269228.5	-	16	2994	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E496K	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	814					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAACAGCTCTCTGAGGCCTGG	0.463000													58	94					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25639816	25639816	+	Silent	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:25639816A>G	ENST00000435706.2	-	36	5049	c.4848T>C	c.(4846-4848)gaT>gaC	p.D1616D	TOP2B_ENST00000264331.4_Silent_p.D1621D|TOP2B_ENST00000540199.1_Silent_p.D473D|TOP2B_ENST00000542520.1_Silent_p.D473D			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1621					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ACATTGCAAAATCAACATCAT	0.398000													49	41					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477678	88477678	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:88477678G>A	ENST00000267549.3	+	2	1045	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	163					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGCGATGCCGAAAAGTCTAA	0.393000													5	224					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24589040	24589040	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:24589040G>A	ENST00000446197.3	+	11	1754	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	DCAF11_ENST00000396936.1_Missense_Mutation_p.D243N|DCAF11_ENST00000396941.4_Missense_Mutation_p.D317N|DCAF11_ENST00000559115.1_Missense_Mutation_p.D343N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	343						CUL4 RING ubiquitin ligase complex	protein binding										CATGCGGGAGGATGACCCCAA	0.567000													13	25					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368726	133368726	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133368726C>G	ENST00000260810.5	-	9	1282	c.1151G>C	c.(1150-1152)gGa>gCa	p.G384A	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	384	BRCT 3.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AACTCCACCTCCACTGTTAAT	0.338000								Other conserved DNA damage response genes					19	34					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6663752	6663752	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:6663752G>C	ENST00000361842.3	+	4	492	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	XAF1_ENST00000346752.4_Missense_Mutation_p.E66Q|XAF1_ENST00000438512.1_Missense_Mutation_p.E85Q|XAF1_ENST00000441631.1_Missense_Mutation_p.E85Q	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	85			E -> G (in dbSNP:rs34195599).		apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GCGCCCTGTTGAGTGTAAGTT	0.527000													8	20					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192658	123192658	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:123192658G>T	ENST00000264501.4	+	47	8352	c.7979G>T	c.(7978-7980)aGa>aTa	p.R2660I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660I			Q2LD37	K1109_HUMAN	KIAA1109	2660					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATTAGGAAGATCTGAAAGA	0.353000													13	36					4.36969e-10	4.51385e-10	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512000													44	138					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48205825	48205825	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:48205825C>T	ENST00000302506.3	-	13	1702	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	CDC25A_ENST00000351231.3_Missense_Mutation_p.E392K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	432	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGAAAACTCGCAGTGAAAC	0.498000													7	133					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41826842	41826842	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:41826842C>T	ENST00000379480.4	-	5	736	c.636G>A	c.(634-636)caG>caA	p.Q212Q	MTRF1_ENST00000430347.2_Silent_p.Q225Q|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Silent_p.Q212Q	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	212					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ACGAATAATTCTGGTACATGT	0.363000													12	49					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113530244	113530244	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:113530244G>C	ENST00000487903.1	+	28	3404	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	ATP11A_ENST00000375645.3_Missense_Mutation_p.E1106Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E1106Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E1106Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1106					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AACAGCAACAGAGAGAGTCCA	0.632000													19	52					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114172956	114172956	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:114172956G>C	ENST00000393081.1	+	12	1281	c.974G>C	c.(973-975)aGa>aCa	p.R325T	ACSL5_ENST00000433418.1_Missense_Mutation_p.R325T|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.R381T|ACSL5_ENST00000354273.4_Missense_Mutation_p.R325T|ACSL5_ENST00000354655.4_Missense_Mutation_p.R325T|ACSL5_ENST00000369410.3_Missense_Mutation_p.R107T	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	325					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGTGGAGCCAGAGTTGGATTC	0.483000													46	134					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935880	130935880	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:130935880C>T	ENST00000261655.4	-	5	476	c.313G>A	c.(313-315)Gag>Aag	p.E105K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E13K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E13K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	105						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATAGCGCTCTCCTGACCTGGC	0.562000													23	38					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502550	50502550	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:50502550G>A	ENST00000311597.5	-	11	1578	c.972C>T	c.(970-972)atC>atT	p.I324I	MLC1_ENST00000535444.1_Silent_p.I245I|MLC1_ENST00000450140.2_Silent_p.I272I|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.I324I|MLC1_ENST00000538737.1_Silent_p.I290I|MLC1_ENST00000431262.2_Silent_p.I294I	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	324						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCACGCACTGGATGGCGGTGC	0.667000													15	35					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50903317	50903317	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903317C>T	ENST00000313478.7	-	17	2534	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TRPM7_ENST00000560955.1_Silent_p.L751L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	751					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCTCATATTCAGCCTTCCCA	0.333000													36	83					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237439	29237439	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:29237439C>T	ENST00000382535.3	+	2	1323	c.954C>T	c.(952-954)caC>caT	p.H318H	FOXG1_ENST00000313071.4_Silent_p.H318H			P55316	FOXG1_HUMAN	forkhead box G1	318				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCTGCACCACCCCCGCGCCA	0.667000													49	96					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160073896	160073896	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:160073896G>A	ENST00000326448.7	-	8	1114	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	IFT80_ENST00000483465.1_Missense_Mutation_p.H91Y|IFT80_ENST00000496589.1_Missense_Mutation_p.H91Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.H399Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	228						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGATGCTCATGAGGTTGTGAA	0.393000													43	93					0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56736662	56736662	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:56736662C>G	ENST00000260453.3	-	5	830	c.666G>C	c.(664-666)aaG>aaC	p.K222N	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	222	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTTCATAGATCTTCCTAACAA	0.328000													23	46					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014111	127014111	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:127014111G>A	ENST00000393313.1	-	5	1870	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	ZNF800_ENST00000393312.1_Missense_Mutation_p.P427S|ZNF800_ENST00000265827.3_Missense_Mutation_p.P427S			Q2TB10	ZN800_HUMAN	zinc finger protein 800	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCATTCTGTGGAGAATGGGTA	0.363000													32	84					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14340849	14340849	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:14340849G>C	ENST00000571589.1	+	12	1904	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	MKL2_ENST00000318282.5_Missense_Mutation_p.E578Q|MKL2_ENST00000341243.5_Missense_Mutation_p.E567Q|MKL2_ENST00000574045.1_Missense_Mutation_p.E578Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	567	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGAGAAAGAGAAGCAAAT	0.478000													21	42					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886384	75886384	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:75886384G>C	ENST00000274364.6	+	8	1089	c.792G>C	c.(790-792)aaG>aaC	p.K264N	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	264	Poly-Lys.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGCCAAAAAGAAAAAAGAGG	0.358000													22	66					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10400928	10400928	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:10400928C>T	ENST00000274140.5	+	11	1078	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	MARCH6_ENST00000449913.2_Missense_Mutation_p.L268F|MARCH6_ENST00000503788.1_Missense_Mutation_p.L211F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	316					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCATTTCTCCCTTGTTGGTTT	0.328000													37	106					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5121861	5121861	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:5121861C>T	ENST00000262374.5	+	1	42	c.11C>T	c.(10-12)tCa>tTa	p.S4L	ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	4					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ATGGCGGCCTCATGCTTGGTC	0.716000													9	10					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29602185	29602185	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:29602185G>A	ENST00000373779.3	+	8	1499	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	PTPRU_ENST00000323874.8_Missense_Mutation_p.R457Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R457Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R457Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R457Q	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	457	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.R457Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCCCTATCGGAACGTTCAC	0.567000													19	32					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708344	152708344	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:152708344C>T	ENST00000367255.5	-	54	8951	c.8350G>A	c.(8350-8352)Gaa>Aaa	p.E2784K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2823K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2791K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2784K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2784					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGATCTTCTGCCTCAGAC	0.493000										HNSCC(10;0.0054)			51	122					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909724	23909724	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:23909724G>A	ENST00000382298.3	-	10	8879	c.8291C>T	c.(8290-8292)tCa>tTa	p.S2764L	SACS_ENST00000402364.1_Missense_Mutation_p.S2014L|SACS_ENST00000382292.3_Missense_Mutation_p.S2764L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2764					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCCTTTACTGAATACAGCAC	0.353000													45	111					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11855277	11855277	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:11855277C>T	ENST00000376592.1	-	5	1037	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MTHFR_ENST00000376583.3_Silent_p.V344V|MTHFR_ENST00000376585.1_Silent_p.V344V|MTHFR_ENST00000376590.3_Silent_p.V303V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	303					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGCACAGGCTCACGGCCAGCT	0.592000													19	55					0	0	1	0	0
TMEM138	51524	broad.mit.edu	37	11	61131945	61131945	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:61131945C>G	ENST00000542946.1	+	2	282	c.83C>G	c.(82-84)tCa>tGa	p.S28*	TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Nonsense_Mutation_p.S28*			Q9NPI0	TM138_HUMAN	transmembrane protein 138	28						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						AATTCCTTCTCAGAACTGCTC	0.502000													34	71					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478161	133478161	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:133478161C>T	ENST00000402696.3	+	9	1676	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TF_ENST00000264998.3_Silent_p.I270I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	397	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.I397I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547000													36	99					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627224	148627224	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:148627224C>G	ENST00000441248.1	+	3	1635	c.48C>G	c.(46-48)gtC>gtG	p.V16V	CXorf40A_ENST00000423540.2_Silent_p.V16V|CXorf40A_ENST00000393985.3_Silent_p.V16V|CXorf40A_ENST00000422892.2_Silent_p.V16V|CXorf40A_ENST00000450602.2_Silent_p.V16V|CXorf40A_ENST00000359293.5_Silent_p.V16V|CXorf40A_ENST00000423421.1_Silent_p.V16V|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000434353.2_Silent_p.V16V|CXorf40A_ENST00000514208.1_Silent_p.V16V			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	16							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCTTTGTCTTAAATGGAA	0.597000													20	22					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537000													108	263					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15569357	15569357	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:15569357C>T	ENST00000343625.6	-	7	852	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	258	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGTGGGGCTCCCCCAGGAGG	0.622000													17	16					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179519703	179519703	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:179519703G>C	ENST00000467460.1	-	15	2124	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	PEX5L_ENST00000485199.1_Silent_p.L563L|PEX5L_ENST00000476138.1_Silent_p.L555L|PEX5L_ENST00000472994.1_Silent_p.L539L|PEX5L_ENST00000468741.1_Silent_p.L406L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.L574L|PEX5L_ENST00000464614.1_Silent_p.L490L|PEX5L_ENST00000392649.3_Silent_p.L490L|PEX5L_ENST00000263962.8_Silent_p.L596L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	598					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCATCAGAGAGAGCGCAATTC	0.473000													56	184					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646294	101646294	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:101646294C>G	ENST00000342239.3	-	13	3544	c.3453G>C	c.(3451-3453)aaG>aaC	p.K1151N	DNMBP_ENST00000540316.1_Missense_Mutation_p.K63N|DNMBP_ENST00000543621.1_Missense_Mutation_p.K373N|DNMBP_ENST00000324109.4_Missense_Mutation_p.K1127N|DNMBP_ENST00000472036.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1127	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGTCCAGGAGCTTGTCAAAGC	0.507000													54	170					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28370247	28370247	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:28370247G>T	ENST00000261609.7	-	84	13003	c.12895C>A	c.(12895-12897)Cag>Aag	p.Q4299K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4299					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCTTACCCTGAAGGGCAGCT	0.582000													56	197					2.47907e-22	2.62028e-22	1	1	0
LUZP4	51213	broad.mit.edu	37	X	114540824	114540824	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:114540824G>C	ENST00000371920.3	+	4	404	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	133						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGCCAGTCAGAGGGGAACCA	0.433000													30	17					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45553591	45553591	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45553591G>A	ENST00000291577.6	+	1	105	c.12G>A	c.(10-12)gtG>gtA	p.V4V	C21orf33_ENST00000427803.2_Silent_p.V4V|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.V4V	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	4						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		TGGCGGCTGTGAGGGTCCTGG	0.692000													3	8					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135961694	135961694	+	RNA	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:135961694G>A	ENST00000411440.2	+	0	529					NR_001275.2																						TCGGATGCCCGTCTACCCCAA	0.617000													3	25					0	0	1	0	0
MED30	90390	broad.mit.edu	37	8	118541046	118541046	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:118541046G>A	ENST00000297347.3	+	2	498	c.334G>A	c.(334-336)Gag>Aag	p.E112K	MED30_ENST00000522839.1_Missense_Mutation_p.E112K	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	112					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CATTCCAGTCGAGGTAATTTT	0.388000													31	170					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100503251	100503251	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:100503251C>A	ENST00000395209.3	+	13	1953	c.1426C>A	c.(1426-1428)Ctc>Atc	p.L476I	DRP2_ENST00000541709.1_Missense_Mutation_p.L398I|DRP2_ENST00000402866.1_Missense_Mutation_p.L476I|DRP2_ENST00000538510.1_Missense_Mutation_p.L476I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	476					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGACATGAGCCTCAATTGGCT	0.493000													65	43					6.20203e-27	6.59707e-27	1	1	0
BCL6	604	broad.mit.edu	37	3	187447584	187447584	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:187447584G>A	ENST00000406870.2	-	5	975	c.609C>T	c.(607-609)gtC>gtT	p.V203V	BCL6_ENST00000450123.2_Silent_p.V203V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.V203V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	203					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGAGGCTGCTGACAGGGAGGT	0.627000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								15	43					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69943301	69943301	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:69943301G>C	ENST00000370598.1	+	18	3421	c.2600G>C	c.(2599-2601)aGa>aCa	p.R867T	BAI3_ENST00000238918.8_Missense_Mutation_p.R73T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	867	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCAACCTAGAGAAATAGTA	0.443000													38	104					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58017977	58017977	+	Missense_Mutation	SNP	G	G	C	rs139805602	by1000genomes	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:58017977G>C	ENST00000282292.4	+	4	654	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	ZNF773_ENST00000598770.1_Missense_Mutation_p.E171Q|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCACACGGGAGAGAAGTCACA	0.478000													8	35					0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8889890	8889890	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:8889890G>C	ENST00000333050.6	-	2	594	c.561C>G	c.(559-561)ttC>ttG	p.F187L	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	187						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGTGACGTAGAAGGTCTGTT	0.537000													52	124					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108646	64108646	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:64108646C>G	ENST00000356786.5	+	4	428	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	128					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGACCCTCTCTCAGGTGCTC	0.607000													25	61					0	0	1	0	0
METTL23	124512	broad.mit.edu	37	17	74729704	74729704	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:74729704C>T	ENST00000341249.6	+	5	841	c.509C>T	c.(508-510)tCt>tTt	p.S170F	RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000590964.1_Missense_Mutation_p.S103F|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.S103F|METTL23_ENST00000588822.1_Missense_Mutation_p.S103F|METTL23_ENST00000586200.1_Missense_Mutation_p.S51F|METTL23_ENST00000586738.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	170						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						ATAGCAGAATCTACCCTTCCA	0.403000													55	117					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97467507	97467507	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:97467507C>A	ENST00000389672.5	+	18	3393	c.3355C>A	c.(3355-3357)Cac>Aac	p.H1119N		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1024						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTACGTTTACACATGATGCA	0.403000													6	19					0.0293803	0.0294391	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141135780	141135780	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:141135780C>G	ENST00000389484.3	-	68	11578	c.10607G>C	c.(10606-10608)gGa>gCa	p.G3536A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3536	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAAAATCTCCATCACACCA	0.403000										TSP Lung(27;0.18)			27	79					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115618363	115618363	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:115618363C>T	ENST00000369301.3	+	2	467	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	85	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCCTTGATTTCTTCACCTACT	0.343000													46	109					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430187	51430187	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:51430187G>A	ENST00000323686.4	+	1	1457	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	453	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTCAAAGGAGATAGCTTTGC	0.582000													35	102					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203807580	203807580	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:203807580C>T	ENST00000320443.8	+	4	1239	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.P66S|CARF_ENST00000456821.2_Missense_Mutation_p.P54S|CARF_ENST00000545253.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.P66S|CARF_ENST00000545262.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.P66S|CARF_ENST00000434998.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000414439.1_Intron					calcium responsive transcription factor																		TATACCAGGGCCCCTGACTCA	0.438000													46	50					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52394003	52394003	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:52394003C>T	ENST00000420323.2	+	27	4740	c.4479C>T	c.(4477-4479)atC>atT	p.I1493I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCGCTAATCGTCATTGAGG	0.567000													64	156					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36143916	36143916	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:36143916C>T	ENST00000258840.6	-	23	3638		c.e23-1		RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000389698.3_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACTAATTTCTATAGAAAAA	0.363000													7	24					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861753	108861753	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:108861753C>T	ENST00000356922.4	-	2	2136	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	LIG4_ENST00000405925.1_Missense_Mutation_p.E622K|LIG4_ENST00000442234.1_Missense_Mutation_p.E622K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	622					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTTGTGGTTCATCATCACCA	0.423000								Non-homologous end-joining					35	102					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10402728	10402728	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:10402728C>G	ENST00000379613.3	-	5	1142	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E294Q|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E290Q|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E288Q|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E294Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	294	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGCTTACCCTCTACTAGTGAT	0.418000													31	63					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483000													5	163					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937584	32937584	+	Nonsense_Mutation	SNP	C	C	T	rs80359703		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:32937584C>T	ENST00000544455.1	+	18	8472	c.8245C>T	c.(8245-8247)Cag>Tag	p.Q2749*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2749*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2749					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACAGTTGGTCAGAAGATTAT	0.443000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			37	63					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27700854	27700854	+	Silent	SNP	A	A	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:27700854A>C	ENST00000270879.4	-	2	185	c.180T>G	c.(178-180)ggT>ggG	p.G60G	FCN3_ENST00000354982.2_Silent_p.G60G	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	60	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTGAGGACCTGGGGCTC	0.602000													19	36					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647566	117647566	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:117647566G>C	ENST00000368508.3	-	33	5576	c.5378C>G	c.(5377-5379)tCa>tGa	p.S1793*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.S1787*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1793	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAAATTATTTGAAGTGCTCTT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	30					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81094975	81094975	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:81094975G>C	ENST00000378611.4	-	3	1094	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	C16orf46_ENST00000299578.5_Missense_Mutation_p.L327V|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	327										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CGTTTCTGCAGAAGCTGCAAG	0.552000													34	85					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138623273	138623273	+	Missense_Mutation	SNP	G	G	A	rs137852233	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:138623273G>A	ENST00000218099.2	+	4	323	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	106	EGF-like 1; calcium-binding (Potential).		G -> D (in HEMB).|G -> S (in HEMB; mild; Durham).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTTAAATGGCGGCAGTTGCAA	0.398000													24	19					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566641	136566641	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:136566641C>T	ENST00000264162.2	-	8	3286	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1092	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGTGGGCTATCCTATATGGTG	0.537000													25	45					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	614918	614918	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:614918C>G	ENST00000397566.1	-	2	721	c.312G>C	c.(310-312)tgG>tgC	p.W104C	IRF7_ENST00000330243.5_Missense_Mutation_p.W104C|IRF7_ENST00000348655.6_Missense_Mutation_p.W91C|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.W91C|IRF7_ENST00000397574.2_Missense_Mutation_p.W91C	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	91					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTGGTTTTCCAGCCGGCGC	0.716000													3	10					0	0	1	0	0
CSTB	1476	broad.mit.edu	37	21	45194163	45194163	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:45194163G>C	ENST00000291568.5	-	3	392	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	73						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCATGAGGGAGAGATTGGAAC	0.527000													32	79					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62229286	62229286	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:62229286G>A	ENST00000216294.4	+	1	212	c.108G>A	c.(106-108)atG>atA	p.M36I	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	36	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GGAGAAACATGAAGTTCGGGA	0.602000													52	113					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318415	109318415	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:109318415G>A	ENST00000356711.2	+	2	270	c.144G>A	c.(142-144)ctG>ctA	p.L48L	MYO16_ENST00000357550.2_Silent_p.L48L|MYO16_ENST00000251041.5_Silent_p.L48L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	48					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAAAAGGCTGAAGCATGCGA	0.478000													21	34					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3828790	3828790	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:3828790G>T	ENST00000262367.5	-	9	2661	c.1852C>A	c.(1852-1854)Ccc>Acc	p.P618T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P580T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	618	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGCTGCGGGATCAGGTGTT	0.458000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						65	146					3.58576e-35	3.8386e-35	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33147646	33147646	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:33147646C>G	ENST00000280979.4	+	8	3030	c.2860C>G	c.(2860-2862)Cat>Gat	p.H954D	AKAP6_ENST00000557272.1_Missense_Mutation_p.H954D|AKAP6_ENST00000557354.1_Missense_Mutation_p.H954D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	954					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAAAAGTTCATTCAGTGGG	0.408000													30	86					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952860	6952860	+	Splice_Site	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:6952860G>A	ENST00000435982.2	+	7	584		c.e7+1		GNB3_ENST00000229264.3_Silent_p.T165T			P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGGACACCACGTGGTGAGGCT	0.577000													33	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076986	9076986	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:9076986G>A	ENST00000397910.4	-	3	10663	c.10460C>T	c.(10459-10461)tCt>tTt	p.S3487F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3488	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGTGACAGATGACGCAGA	0.502000													27	55					0	0	1	0	0
CLEC2D	29121	broad.mit.edu	37	12	9845688	9845688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:9845688C>T	ENST00000261340.7	+	5	542	c.520C>T	c.(520-522)Cga>Tga	p.R174*	CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000261339.6_Intron|CLEC2D_ENST00000290855.6_Intron|CLEC2D_ENST00000545918.1_Intron	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	0	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	p.R174*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						ACAAGTTCCTCGAATGAATCC	0.373000													34	98					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209989	53209989	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:53209989C>G	ENST00000543227.1	-	6	593	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	ZNF611_ENST00000453741.2_Missense_Mutation_p.E38Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E38Q|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000319783.1_Missense_Mutation_p.E107Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E107Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ATTTCTTTCTCAATTTCCTGG	0.398000													10	357					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797269	241797269	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:241797269G>A	ENST00000366553.1	-	1	1963	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	600					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTTGGAAAGATCTCCTGGA	0.463000													55	104					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45860569	45860569	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:45860569T>C	ENST00000391945.4	-	15	1515	c.1438A>G	c.(1438-1440)Acc>Gcc	p.T480A	ERCC2_ENST00000391944.3_Missense_Mutation_p.T402A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	480	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGGTGAAGGTTGCCATGGTG	0.662000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	28					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889106	32889106	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:32889106G>A	ENST00000266087.7	+	7	1309	c.982G>A	c.(982-984)Gat>Aat	p.D328N	FBXO7_ENST00000397426.1_Missense_Mutation_p.D214N|FBXO7_ENST00000382058.3_Missense_Mutation_p.D249N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	328				D -> N (in Ref. 7; AAF04471).	cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAACCTACCAGATGTATTTGG	0.433000													77	207					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916981	150916981	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:150916981G>T	ENST00000309180.5	-	3	423	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	65						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTAATGCCAGAGTAAGCAGG	0.408000													29	89					3.65163e-15	3.82733e-15	1	1	0
NLRC5	84166	broad.mit.edu	37	16	57075484	57075484	+	Silent	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:57075484C>A	ENST00000436936.1	+	18	3252	c.3027C>A	c.(3025-3027)ctC>ctA	p.L1009L	NLRC5_ENST00000262510.6_Silent_p.L1009L|NLRC5_ENST00000539144.1_Silent_p.L1009L|NLRC5_ENST00000308149.7_Silent_p.L1009L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1009					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTCCACCTCGAGTGAGTGG	0.522000													25	55					4.59853e-10	4.74046e-10	1	1	0
HACL1	26061	broad.mit.edu	37	3	15637922	15637922	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:15637922C>T	ENST00000321169.5	-	3	563	c.196G>A	c.(196-198)Gct>Act	p.A66T	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.A66T|HACL1_ENST00000457447.2_Missense_Mutation_p.A66T|HACL1_ENST00000456194.2_Missense_Mutation_p.A66T	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	66					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCGGAGGCAGCATAACAAGCC	0.358000													4	65					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35565124	35565124	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:35565124G>C	ENST00000542713.1	-	6	723	c.566C>G	c.(565-567)aCt>aGt	p.T189S	FKBP5_ENST00000540787.1_Missense_Mutation_p.T10S|FKBP5_ENST00000539068.1_Missense_Mutation_p.T189S|FKBP5_ENST00000536438.1_Missense_Mutation_p.T189S|FKBP5_ENST00000357266.4_Missense_Mutation_p.T189S	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	189	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TTCGCCCACAGTGAATGCCAC	0.493000													78	50					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116485415	116485415	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:116485415C>G	ENST00000410059.1	+	8	1080	c.600C>G	c.(598-600)atC>atG	p.I200M	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.I204M|DPP10_ENST00000310323.8_Missense_Mutation_p.I193M|DPP10_ENST00000409163.1_Missense_Mutation_p.I150M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	200					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAATAATATCTACTATCAAC	0.308000													15	23					0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55663241	55663241	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:55663241C>G	ENST00000344887.5	-	8	736	c.594G>C	c.(592-594)ctG>ctC	p.L198L	TNNI3_ENST00000588882.1_Silent_p.L173L	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	198					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATTCCACTCAGTGCATCGA	0.557000													22	46					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91518641	91518641	+	Splice_Site	SNP	T	T	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr10:91518641T>G	ENST00000416354.1	+	27	4842		c.e27+2		KIF20B_ENST00000371728.3_Splice_Site|KIF20B_ENST00000260753.4_Splice_Site|KIF20B_ENST00000478929.1_Splice_Site|KIF20B_ENST00000394289.2_Splice_Site			Q96Q89	KI20B_HUMAN	kinesin family member 20B						cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTAAAATAGTCAGTAGTCTT	0.279000													53	89					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183679419	183679419	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:183679419C>T	ENST00000334444.6	-	16	2499	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ABCC5_ENST00000265586.6_Silent_p.V753V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	753	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATGAAGATCACTTCATCAC	0.398000													28	65					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150844505	150844505	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:150844505G>T	ENST00000370357.4	+	16	2457	c.2212G>T	c.(2212-2214)Gat>Tat	p.D738Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	738						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACCTCCTGATCCACAGGC	0.517000													83	59					2.25582e-47	2.42525e-47	1	1	0
CD93	22918	broad.mit.edu	37	20	23066032	23066032	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:23066032G>A	ENST00000246006.4	-	1	945	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	266	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCATTGTTGAAGTTGCAGC	0.607000													64	125					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111072531	111072531	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:111072531G>A	ENST00000551590.1	+	6	925	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	TCTN1_ENST00000397659.4_Missense_Mutation_p.E257K|TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.E79K|TCTN1_ENST00000397655.3_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	257					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGAACAGTGTGAAGAAATTGA	0.368000													15	63					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087578	57087578	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:57087578C>G	ENST00000532437.1	-	2	1014	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E235Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	235	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGCTGTGCTCTTCCCGGCAC	0.617000													20	82					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134262697	134262697	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134262697G>C	ENST00000414097.2	-	10	1551	c.684C>G	c.(682-684)atC>atG	p.I228M	NDRG1_ENST00000537882.1_Missense_Mutation_p.I147M|NDRG1_ENST00000323851.7_Missense_Mutation_p.I228M|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.I158M|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.I162M	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	228					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTAGGCATTGATGAACAGGT	0.473000			T	ERG	prostate								41	214					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50903487	50903487	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:50903487C>G	ENST00000313478.7	-	17	2364	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E695Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	695					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGACTGTTCTAATAATTCA	0.333000													31	73					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25760611	25760611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:25760611G>C	ENST00000399878.3	-	21	3157	c.3035C>G	c.(3034-3036)tCa>tGa	p.S1012*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.S859*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.S977*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1012						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATGGAGAGTTGAGTCAATTTC	0.433000													44	88					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79084738	79084738	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:79084738C>A	ENST00000575245.1	+	15	1756	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L	BAIAP2_ENST00000428708.2_Intron|BAIAP2_ENST00000435091.3_Missense_Mutation_p.F520L|BAIAP2_ENST00000321300.6_Intron|BAIAP2_ENST00000392411.3_Intron			Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	0					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCAGATTCTGAGCCGCCT	0.617000													48	68					2.9001e-28	3.09139e-28	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106801	168106801	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:168106801G>C	ENST00000409195.1	+	9	8988	c.8899G>C	c.(8899-8901)Gag>Cag	p.E2967Q	XIRP2_ENST00000409273.1_Missense_Mutation_p.E2745Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2967Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2792				S -> A (in Ref. 8; CAD91141).	actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAGCAGAGCCAAATAA	0.388000													45	92					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206614	142206614	+	RNA	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:142206614C>T	ENST00000426318.2	-	0	291																											ACATAGCCATCGGGGACTTCT	0.502000													59	145					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	69061264	69061264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:69061264C>T	ENST00000487270.1	+	11	1147	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	RAD51B_ENST00000487861.1_Intron|RAD51B_ENST00000488612.1_Intron|RAD51B_ENST00000390683.3_Intron	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	367					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						cctcccacctcagcctcctga	0.453000								Direct reversal of damage					4	15					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362295	49362295	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49362295G>A	ENST00000263265.6	-	8	1349	c.794C>T	c.(793-795)cCc>cTc	p.P265L	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	265	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGGGCAGGGGGTGCTGTGTC	0.706000													5	14					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155469444	155469444	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:155469444G>C	ENST00000461783.3	+	9	3277	c.2004G>C	c.(2002-2004)aaG>aaC	p.K668N	TIAM2_ENST00000529824.2_Missense_Mutation_p.K668N|TIAM2_ENST00000456144.1_Missense_Mutation_p.K668N|TIAM2_ENST00000367174.2_Missense_Mutation_p.K20N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K668N|TIAM2_ENST00000318981.5_Missense_Mutation_p.K668N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	668					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCGACCCAAAGAACAGGAAAG	0.478000													10	20					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2593870	2593870	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:2593870C>T	ENST00000358864.1	+	14	1789	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	592						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCTGACATGCTGGTAACGTA	0.547000													21	55					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208473	121208473	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:121208473G>C	ENST00000264233.5	-	16	3433	c.3305C>G	c.(3304-3306)tCt>tGt	p.S1102C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1102					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCACTCAAAGATACATTTTT	0.333000								DNA polymerases (catalytic subunits)					42	88					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805314	115805314	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:115805314G>C	ENST00000490035.1	-	2	744	c.245C>G	c.(244-246)cCa>cGa	p.P82R	LSAMP_ENST00000539563.1_Missense_Mutation_p.P79R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	82	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCAACCCGTGGGTCCAGAGA	0.502000													26	40					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558507	143558507	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:143558507A>G	ENST00000517894.1	+	5	1984	c.1090A>G	c.(1090-1092)Agc>Ggc	p.S364G	BAI1_ENST00000323289.5_Missense_Mutation_p.S364G			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	364	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCCCCGTGGAGCGTGTGCTC	0.711000													28	17					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11706755	11706755	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:11706755G>A	ENST00000381486.2	+	4	727	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GREB1_ENST00000381483.2_Missense_Mutation_p.D143N|GREB1_ENST00000389825.3_Missense_Mutation_p.D33N|GREB1_ENST00000234142.5_Missense_Mutation_p.D143N|GREB1_ENST00000263834.5_Missense_Mutation_p.D143N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	143						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTTCTTGCCAGATGACAATGG	0.592000													45	116					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103109132	103109132	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:103109132C>T	ENST00000374902.4	-	3	913	c.737G>A	c.(736-738)aGa>aAa	p.R246K	TEX10_ENST00000537512.1_Missense_Mutation_p.R181K|TEX10_ENST00000535814.1_Missense_Mutation_p.R249K	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	246						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCACTTTCTCTCAACCTACT	0.453000													50	90					0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30613683	30613683	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:30613683C>G	ENST00000330083.5	+	11	1262	c.944C>G	c.(943-945)cCa>cGa	p.P315R	ATAT1_ENST00000376485.4_Missense_Mutation_p.P327R|ATAT1_ENST00000376478.2_Missense_Mutation_p.P304R|ATAT1_ENST00000468713.1_3'UTR	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	327							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGACTCCCCCAGGTCTGGTA	0.532000													6	4					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259836	35259836	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:35259836G>A	ENST00000342280.4	+	2	110	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	8					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGCTTCCTGGAGAAGTTGCT	0.617000													11	36					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44030763	44030763	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:44030763C>G	ENST00000600651.1	-	2	153	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ZNF575_ENST00000458714.2_Silent_p.L40L|ETHE1_ENST00000292147.2_Missense_Mutation_p.E44Q			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	44						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TCCCGGGACTCTCTGTCACCC	0.637000													12	34					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465343	77465343	+	Nonsense_Mutation	SNP	G	G	T	rs145596475		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:77465343G>T	ENST00000282849.5	-	3	762	c.344C>A	c.(343-345)tCg>tAg	p.S115*	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	115					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S115L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAAATCGCCGAGGGCTTAAG	0.488000													84	146					5.71386e-39	6.12986e-39	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89884785	89884785	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:89884785G>C	ENST00000389297.4	+	2	420	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	C7orf63_ENST00000497910.1_Missense_Mutation_p.E57Q|C7orf63_ENST00000316089.8_Missense_Mutation_p.E57Q|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	57							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTCCTCGAAGAGACTGATAA	0.338000													95	177					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	181768	181768	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:181768C>T	ENST00000283426.6	+	17	3524	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1158					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACCGAGTCCCCGACAGCATCG	0.622000													34	68					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48249115	48249115	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:48249115G>A	ENST00000394747.1	-	7	1441	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ABCC11_ENST00000353782.5_Silent_p.I364I|ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000537808.1_Silent_p.I364I|ABCC11_ENST00000394748.1_Silent_p.I364I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	364	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I364I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TACCTTCAATGATTTTTGCAA	0.443000													52	150					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59406558	59406558	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:59406558C>G	ENST00000300146.9	-	18	2338	c.2254G>C	c.(2254-2256)Gac>Cac	p.D752H	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	752	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGCCGGTCAACATAGCGA	0.463000													24	50					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348000													28	94					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246147	46246147	+	Missense_Mutation	SNP	G	G	A	rs146518146	byFrequency	TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:46246147G>A	ENST00000334344.6	+	15	4413	c.4241G>A	c.(4240-4242)aGa>aAa	p.R1414K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R1024K|ARID2_ENST00000457135.1_Missense_Mutation_p.R22K|ARID2_ENST00000422737.1_Missense_Mutation_p.R1265K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1414					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAACTAGAAAGAATTTCTAAT	0.408000			"""N, S, F"""		hepatocellular carcinoma								48	84					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513015	61513015	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:61513015C>G	ENST00000266070.4	-	16	4618	c.4293G>C	c.(4291-4293)gaG>gaC	p.E1431D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1431D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1431					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTAAGATGGTCTCATCCTCGG	0.612000													68	127					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:58621779G>C	ENST00000317147.5	-	4	546	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q72E|CNOT1_ENST00000441024.2_Missense_Mutation_p.Q72E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353000													22	30					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174096945	174096945	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:174096945G>C	ENST00000375213.3	+	13	1136	c.1058G>C	c.(1057-1059)aGa>aCa	p.R353T	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R353T	NM_016653.2	NP_057737.2																					CAGCTCGTCAGAAAAGGCAAG	0.388000													39	107					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25828547	25828547	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:25828547G>C	ENST00000381801.5	-	10	1882	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	MTMR6_ENST00000540661.1_Missense_Mutation_p.S374C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	374	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATGTCCAAAAGAGATCCAATC	0.284000													8	28					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173889	49173889	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:49173889C>T	ENST00000270235.4	-	2	450	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	119						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTCACCCTTTCAGGGCCCCCT	0.701000													3	11					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445505	10445505	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:10445505C>T	ENST00000326756.3	-	3	2886	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCGCCTGTCTCACAGGGCAAA	0.468000													59	109					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596249	53596249	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:53596249C>G	ENST00000025008.5	-	5	752	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E77Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E77Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	77					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAGATCATTTCTTTGTTAAAA	0.308000													54	43					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813492	248813492	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:248813492C>T	ENST00000344889.3	-	1	693	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCTCCCCTCTGCCTCGCTC	0.498000													10	31					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440870	76440870	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:76440870C>G	ENST00000389840.5	-	71	11426	c.11302G>C	c.(11302-11304)Gag>Cag	p.E3768Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3777Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATCCATCTCCGAGAGGGCC	0.577000													9	36					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148734	105148734	+	Missense_Mutation	SNP	C	C	A	rs141121953		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:105148734C>A	ENST00000356362.2	-	2	440	c.226G>T	c.(226-228)Gct>Tct	p.A76S	PUS7_ENST00000469408.1_Missense_Mutation_p.A76S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	76					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCAACTGAGCCTCAGAATTC	0.493000													52	152					4.88482e-21	5.14138e-21	1	1	0
UBA1	7317	broad.mit.edu	37	X	47058240	47058240	+	Silent	SNP	C	C	T	rs141450062		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:47058240C>T	ENST00000335972.6	+	2	222	c.39C>T	c.(37-39)tcC>tcT	p.S13S	UBA1_ENST00000377351.4_Silent_p.S13S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	13					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCGCGTGTCCGGGCCTGATC	0.572000													18	18					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524081	24524081	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:24524081C>T	ENST00000376862.3	+	2	981	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	116					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCACCTTCATCGAGGACCGGT	0.597000													33	118					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103275226	103275226	+	Splice_Site	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:103275226G>C	ENST00000376052.3	+	6	636		c.e6-1		TPP2_ENST00000376065.4_Splice_Site			P29144	TPP2_HUMAN	tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAATTAATAGAGCCTGCATT	0.343000													56	140					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175858	63175858	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:63175858G>T	ENST00000263991.5	+	14	2464	c.1982G>T	c.(1981-1983)gGa>gTa	p.G661V	EHBP1_ENST00000431489.1_Missense_Mutation_p.G626V|EHBP1_ENST00000405289.1_Missense_Mutation_p.G626V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G626V|EHBP1_ENST00000405015.3_Missense_Mutation_p.G626V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	661						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAGAGCTCTGGAAGGACTTCA	0.463000													16	57					6.31663e-08	6.47164e-08	1	1	0
SAFB	6294	broad.mit.edu	37	19	5668276	5668276	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:5668276G>A	ENST00000292123.5	+	21	2829	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SAFB_ENST00000433404.1_Missense_Mutation_p.D740N|SAFB_ENST00000592224.1_Missense_Mutation_p.D909N|SAFB_ENST00000538656.1_Missense_Mutation_p.D752N|SAFB_ENST00000454510.1_Missense_Mutation_p.D841N|SAFB_ENST00000588852.1_Missense_Mutation_p.D910N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	908	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGGCCCAGCGATGCCCGCTT	0.622000													23	37					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30927505	30927505	+	Silent	SNP	T	T	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:30927505T>C	ENST00000399914.1	-	15	2951	c.2430A>G	c.(2428-2430)aaA>aaG	p.K810K	GRIK1_ENST00000327783.4_Silent_p.K825K|GRIK1_ENST00000399907.1_Silent_p.K825K|GRIK1_ENST00000389124.2_Silent_p.K825K|GRIK1_ENST00000399909.1_Silent_p.K810K|GRIK1_ENST00000389125.3_Silent_p.K810K|GRIK1_ENST00000309434.7_Silent_p.K827K|GRIK1_ENST00000399913.1_Silent_p.K825K|GRIK1_ENST00000535441.1_Silent_p.K827K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	825					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CACTGGCTTCTTTGTTGTCTT	0.453000													36	117					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873736	36873736	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:36873736G>A	ENST00000301807.6	-	21	7453	c.5556C>T	c.(5554-5556)atC>atT	p.I1852I	TRANK1_ENST00000428977.2_Silent_p.I1852I|TRANK1_ENST00000429976.2_Silent_p.I2402I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2402					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAATGCTGGGGATGAGTGGTT	0.502000													74	62					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97482676	97482676	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:97482676G>C	ENST00000175506.4	-	12	1789	c.1261C>G	c.(1261-1263)Cta>Gta	p.L421V	ASNS_ENST00000394308.3_Missense_Mutation_p.L421V|ASNS_ENST00000437628.1_Missense_Mutation_p.L338V|ASNS_ENST00000394309.3_Missense_Mutation_p.L421V|ASNS_ENST00000444334.1_Missense_Mutation_p.L400V|ASNS_ENST00000422745.1_Missense_Mutation_p.L400V|ASNS_ENST00000455086.1_Missense_Mutation_p.L338V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	421	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGATGATCTAGAAATGGGACT	0.378000													36	93					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20135093	20135093	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:20135093C>T	ENST00000397165.2	-	2	256	c.96G>A	c.(94-96)gtG>gtA	p.V32V	ZNF682_ENST00000593468.1_Silent_p.V32V|ZNF682_ENST00000397162.1_5'UTR|ZNF682_ENST00000596019.1_Silent_p.V32V|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000597972.1_Silent_p.V38V|ZNF682_ENST00000595736.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCTAGCATCACTTTCCTAT	0.393000													46	100					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112865405	112865405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:112865405C>A	ENST00000283206.4	+	17	1934	c.1565C>A	c.(1564-1566)tCa>tAa	p.S522*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	522						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCCCTCTTCATTCACAGAT	0.318000													40	79					6.2361e-21	6.54987e-21	1	1	0
ODF2	4957	broad.mit.edu	37	9	131254734	131254734	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131254734C>G	ENST00000303890.5	+	17	2079	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	ODF2_ENST00000372796.4_Silent_p.L522L|ODF2_ENST00000393533.2_Silent_p.L522L|ODF2_ENST00000546203.1_Silent_p.L503L|ODF2_ENST00000351030.3_Silent_p.L517L|ODF2_ENST00000448249.3_Silent_p.L441L|ODF2_ENST00000372791.3_Silent_p.L503L|ODF2_ENST00000372814.3_Silent_p.L566L|ODF2_ENST00000434106.2_Silent_p.L522L|ODF2_ENST00000372807.5_Silent_p.L517L|ODF2_ENST00000444119.2_Silent_p.L498L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	522					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGACAAACTCAACCAGGCAC	0.542000													15	43					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131235288	131235288	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:131235288G>A	ENST00000303890.5	+	9	1191	c.606G>A	c.(604-606)atG>atA	p.M202I	ODF2_ENST00000372796.4_Missense_Mutation_p.M226I|ODF2_ENST00000393533.2_Missense_Mutation_p.M226I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.M207I|ODF2_ENST00000351030.3_Missense_Mutation_p.M221I|ODF2_ENST00000448249.3_Missense_Mutation_p.M145I|ODF2_ENST00000372791.3_Missense_Mutation_p.M207I|ODF2_ENST00000372814.3_Missense_Mutation_p.M270I|ODF2_ENST00000535026.1_Missense_Mutation_p.G111S|ODF2_ENST00000434106.2_Missense_Mutation_p.M226I|ODF2_ENST00000372807.5_Missense_Mutation_p.M221I|ODF2_ENST00000444119.2_Missense_Mutation_p.M202I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	226					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGCAGGTCATGGCCTTGAAGG	0.602000													14	43					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079858	38079858	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:38079858G>A	ENST00000356545.2	-	6	1221	c.434C>T	c.(433-435)cCt>cTt	p.P145L	RSPO1_ENST00000401070.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401071.2_Missense_Mutation_p.P145L|RSPO1_ENST00000401068.1_Missense_Mutation_p.P145L|RSPO1_ENST00000401069.1_Missense_Mutation_p.P145L|RSPO1_ENST00000373059.1_Missense_Mutation_p.P118L	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	145					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTTACCAGGACTACTGCA	0.632000													12	16					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988277	64988277	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:64988277G>C	ENST00000358738.3	+	2	446	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	ZBTB1_ENST00000554015.1_Missense_Mutation_p.E19Q|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E19Q|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAACCAAAGAGAATGGGGTTT	0.393000													55	105					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314967	231314967	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:231314967G>C	ENST00000264052.5	+	8	1172	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	SP100_ENST00000340126.4_Missense_Mutation_p.E273Q|SP100_ENST00000409897.1_Missense_Mutation_p.E238Q|SP100_ENST00000409112.1_Missense_Mutation_p.E273Q|SP100_ENST00000409341.1_Missense_Mutation_p.E273Q|SP100_ENST00000409824.1_Missense_Mutation_p.E248Q|SP100_ENST00000427101.2_Missense_Mutation_p.E248Q|SP100_ENST00000341950.4_Missense_Mutation_p.E273Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	273					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGTGATGAAGAAAGTAATTA	0.428000													31	73					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888526	46888526	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr21:46888526C>T	ENST00000359759.4	+	2	1743	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	COL18A1_ENST00000400337.2_Silent_p.V159V|COL18A1_ENST00000355480.5_Silent_p.V339V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	574	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGCCTTCGTCGGCCAGTGGA	0.637000													39	80					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050925	134050925	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:134050925G>A	ENST00000338087.5	-	9	1494	c.675C>T	c.(673-675)ttC>ttT	p.F225F	TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Silent_p.F117F|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Silent_p.F242F|SLA_ENST00000427060.2_Silent_p.F265F|SLA_ENST00000517648.1_Silent_p.F198F|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	225	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCCATAGCTGAAAAGGGACT	0.512000													21	100					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829689	106829689	+	RNA	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:106829689G>C	ENST00000390616.2	-	0	304																											ATGGTGACTCGACTCTTGAGG	0.567000													8	374					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79934542	79934542	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:79934542G>A	ENST00000360280.3	+	42	5628	c.5368G>A	c.(5368-5370)Gaa>Aaa	p.E1790K	VPS13A_ENST00000376634.4_Missense_Mutation_p.E1790K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1751K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1790K|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1790					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAACCCTTAGAAATTGATCA	0.294000													26	57					0	0	1	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782155	27782155	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:27782155C>T	ENST00000333151.3	-	1	452	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	122					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						TGGTGGCTCTCAGTTTTCTTT	0.493000													78	177					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363000													28	73					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54099678	54099678	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:54099678C>A	ENST00000375180.2	-	16	3135	c.3079G>T	c.(3079-3081)Ggt>Tgt	p.G1027C	FAM120C_ENST00000328235.4_Missense_Mutation_p.K889N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1027										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CGAGACCGACCTTGATGAAGC	0.483000													19	22					5.3912e-06	5.501e-06	1	1	0
SPG7	6687	broad.mit.edu	37	16	89579436	89579436	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr16:89579436G>A	ENST00000268704.2	+	3	382	c.367G>A	c.(367-369)Gag>Aag	p.E123K	SPG7_ENST00000341316.2_Missense_Mutation_p.E123K	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	123					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ggCGCCTGAAGAGGACGAAGG	0.418000													6	14					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207325	58207325	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:58207325G>A	ENST00000302572.2	-	1	321	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTACAAAGAAGAAGAATTGTG	0.448000													33	85					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339681	73339681	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:73339681G>C	ENST00000258098.6	-	1	465	c.225C>G	c.(223-225)ttC>ttG	p.F75L		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	75	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCGGCAGCTCGAAGGAGCACT	0.746000													6	14					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379463	78379463	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:78379463G>C	ENST00000255192.3	+	7	860	c.794G>C	c.(793-795)aGa>aCa	p.R265T	BHMT2_ENST00000521567.1_Missense_Mutation_p.R201T|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	265	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CTGGAGTCCAGAGTTGCCACC	0.438000													19	51					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65691754	65691754	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:65691754G>A	ENST00000395334.2	+	6	924	c.566G>A	c.(565-567)gGa>gAa	p.G189E	AK4_ENST00000546702.1_Missense_Mutation_p.G137E|AK4_ENST00000327299.7_Missense_Mutation_p.G189E|AK4_ENST00000545314.1_Missense_Mutation_p.G189E	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	189						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						AGGAGCCGAGGAGTGCTCCAC	0.418000													20	23					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66611085	66611085	+	Silent	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:66611085C>G	ENST00000309657.3	+	1	203	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RCE1_ENST00000524506.1_Silent_p.L53L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	53					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGGCAGCCTCTACGTCTGGA	0.746000													13	13					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27241766	27241766	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr13:27241766G>C	ENST00000361042.4	+	5	606	c.381G>C	c.(379-381)caG>caC	p.Q127H	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.Q127H			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	127					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTTACAACCAGAGTGATAAGC	0.458000													45	123					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228465551	228465551	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:228465551G>C	ENST00000570156.2	+	30	8212	c.8138G>C	c.(8137-8139)cGa>cCa	p.R2713P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2284P|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1131P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2284P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1710	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGCTCCGAGTGAAGGGT	0.627000													33	55					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41056744	41056744	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41056744G>C	ENST00000324545.7	+	29	4994	c.4361G>C	c.(4360-4362)gGa>gCa	p.G1454A	USP9X_ENST00000378308.2_Missense_Mutation_p.G1454A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1454					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTGAAAAAGGAGGTGCTAAT	0.333000													11	13					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954828	33954828	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:33954828G>C	ENST00000389232.4	+	35	5167	c.5097G>C	c.(5095-5097)ctG>ctC	p.L1699L	RYR3_ENST00000415757.3_Silent_p.L1699L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1699	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGTATGCTGACAGAGGCAG	0.572000													44	100					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166234437	166234437	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:166234437C>G	ENST00000226725.6	+	12	1646	c.1387C>G	c.(1387-1389)Ctt>Gtt	p.L463V	KLHL2_ENST00000538127.1_Missense_Mutation_p.L375V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L467V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L366V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L297V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	463					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ACGTCAGTGTCTTAGCACAGT	0.388000													32	75					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681376	36681376	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr22:36681376C>T	ENST00000216181.5	-	38	5505		c.e38-1		MYH9_ENST00000475726.1_Splice_Site	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGGTCGATCTGCAGAAGAA	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				49	86					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404318	404318	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:404318C>T	ENST00000331563.2	+	12	2429	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	785					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGACTTCCGGGCGGTACG	0.667000													20	70					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566424	45566424	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr18:45566424A>G	ENST00000588982.1	-	3	1556	c.1055T>C	c.(1054-1056)cTg>cCg	p.L352P	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L352P|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L352P|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L352P			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	352						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCTTCTACCAGGGGCCAGGG	0.642000													34	143					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12577597	12577597	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:12577597G>C	ENST00000397732.3	-	2	242	c.71C>G	c.(70-72)tCt>tGt	p.S24C	ZNF709_ENST00000428311.1_Missense_Mutation_p.S24C|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.S24C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTCTTCTGAGAGGGACCCAG	0.458000													50	129					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1424538	1424538	+	Silent	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:1424538G>A	ENST00000216879.4	-	9	1836	c.969C>T	c.(967-969)ctC>ctT	p.L323L	NSFL1C_ENST00000381658.4_Silent_p.L212L|NSFL1C_ENST00000353088.2_Silent_p.L292L|NSFL1C_ENST00000476071.1_Silent_p.L325L|NSFL1C_ENST00000350991.4_Silent_p.L325L|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	323	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCACGATGAAGAGTCGGATGT	0.572000													5	24					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70855889	70855889	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:70855889G>A	ENST00000358731.4	+	37	7584	c.7321G>A	c.(7321-7323)Gaa>Aaa	p.E2441K	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2441					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGCAAGTTGAAGCAGCTTT	0.423000													35	78					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35422771	35422771	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:35422771G>A	ENST00000439785.1	+	3	478	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF30_ENST00000601142.1_Missense_Mutation_p.G12R|ZNF30_ENST00000601957.1_Missense_Mutation_p.G12R|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G12R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAGTATCACGGATCAGTGAC	0.453000													17	31					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805670	54805670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:54805670C>G	ENST00000306858.7	+	5	2017	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	634										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATACTGAATCAAATAACTAT	0.383000													28	66					0	0	1	0	0
UFSP1	402682	broad.mit.edu	37	7	100486564	100486564	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:100486564A>G	ENST00000388761.2	-	1	775	c.329T>C	c.(328-330)gTg>gCg	p.V110A		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	110										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCAGCCCACCCACCCAGC	0.582000													38	98					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8769168	8769168	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr20:8769168G>C	ENST00000378641.3	+	28	3659	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	PLCB1_ENST00000338037.6_Missense_Mutation_p.E1062Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E1062Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1062					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAATCTGTGAGAAGTAAGC	0.358000													16	31					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216803	26216803	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:26216803C>G	ENST00000244601.3	-	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	23					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CATCCTTCTTCTGCGCCTTGG	0.507000													83	159					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16264419	16264419	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:16264419C>T	ENST00000375759.3	+	13	10826	c.10622C>T	c.(10621-10623)tCt>tTt	p.S3541F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3541	SPOC.				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)		CTGCCCCTTTCTGAAGGAGGG	0.627000													36	67					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485800	150485800	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:150485800G>A	ENST00000369047.4	+	10	1605	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ECM1_ENST00000369049.4_Missense_Mutation_p.E521K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.E369K	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	494					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCTGGGGATGAACAGGTCAA	0.522000													45	126					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55518431	55518431	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:55518431C>G	ENST00000302118.5	+	5	1056	c.766C>G	c.(766-768)Caa>Gaa	p.Q256E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.Q56E	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	256	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCTCAACTGCCAAGGGAAGGG	0.667000													12	51					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3775883	3775883	+	Silent	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:3775883C>T	ENST00000381771.2	-	13	1350	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	CAMKK1_ENST00000158166.5_Silent_p.R401R|CAMKK1_ENST00000348335.2_Silent_p.R363R|CAMKK1_ENST00000381769.2_Silent_p.R390R			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	363	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCTTGATCTTCCTGTGGAGGG	0.582000													27	48					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31948488	31948488	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr6:31948488C>T	ENST00000375331.2	+	7	1125	c.959C>T	c.(958-960)tCa>tTa	p.S320L	STK19_ENST00000375333.2_Missense_Mutation_p.S324L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	324						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CTGCTCCTATCAGAGCTCCTG	0.607000													30	71					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857334	153857334	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:153857334C>A	ENST00000231121.2	-	1	490	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	79					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGGCTCTGCCCAGGCCTGGCG	0.736000													5	24					1.23904e-05	1.26171e-05	1	1	0
MYLK	4638	broad.mit.edu	37	3	123427692	123427692	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:123427692C>G	ENST00000360772.3	-	16	2371	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q	MYLK_ENST00000359169.1_Missense_Mutation_p.E665Q|MYLK_ENST00000346322.5_Missense_Mutation_p.E596Q|MYLK_ENST00000475616.1_Missense_Mutation_p.E665Q|MYLK_ENST00000360304.3_Missense_Mutation_p.E665Q			Q15746	MYLK_HUMAN	myosin light chain kinase	665	Ig-like C2-type 5.				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)		TCCTCTGACTCTTGGATCTCA	0.577000													34	114					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22035427	22035427	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:22035427G>A	ENST00000306385.5	+	6	1463	c.793G>A	c.(793-795)Gac>Aac	p.D265N	BMP1_ENST00000306349.8_Missense_Mutation_p.D265N|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.D265N|BMP1_ENST00000397814.3_Missense_Mutation_p.D265N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	265	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGACCTATGACTTCGACAG	0.602000													71	159					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70281738	70281738	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:70281738G>C	ENST00000374274.3	-	3	457	c.341C>G	c.(340-342)tCt>tGt	p.S114C	SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.S110C	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	114	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTCGATGAAAGACTCCTCAAA	0.498000													12	12					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41469159	41469159	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chrX:41469159C>T	ENST00000318588.9	-	12	1198	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	CASK_ENST00000442742.2_Missense_Mutation_p.D385N|CASK_ENST00000361962.4_Missense_Mutation_p.D385N|CASK_ENST00000421587.2_Missense_Mutation_p.D379N|CASK_ENST00000378154.1_Missense_Mutation_p.D385N|CASK_ENST00000378158.1_Missense_Mutation_p.D385N|CASK_ENST00000378163.1_Missense_Mutation_p.D385N|CASK_ENST00000378166.4_Missense_Mutation_p.D385N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	385	L27 1.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGACTTACATCTAGTAGTGTG	0.448000													20	20					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62561766	62561766	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:62561766G>A	ENST00000532297.1	-	20	2353	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	NXF1_ENST00000294172.2_Missense_Mutation_p.S575F|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	575	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACTGGGTAGAGAATGCTTG	0.557000													17	36					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983534	179983534	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr1:179983534C>T	ENST00000367607.3	+	10	2364	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	649						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCCCTCCTTCTGAGCCATCA	0.428000													5	6					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328176	80328176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr14:80328176C>T	ENST00000281127.7	+	6	2047	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	NRXN3_ENST00000335750.5_Nonsense_Mutation_p.Q1019*|NRXN3_ENST00000557594.1_Nonsense_Mutation_p.Q595*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.Q417*|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.Q1019*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	595					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGTCCTATCAAGTGGACGA	0.572000													12	23					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910521	35910521	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr5:35910521C>G	ENST00000397367.2	-	3	388	c.262G>C	c.(262-264)Gat>Cat	p.D88H	CAPSL_ENST00000514524.1_Missense_Mutation_p.D88H|CAPSL_ENST00000397366.1_Missense_Mutation_p.D88H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	88	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCATCTTTATCAAACCTCCGG	0.358000													39	101					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617000													55	42					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7359130	7359130	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:7359130C>G	ENST00000306071.2	+	10	1302	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	CHRNB1_ENST00000536404.2_Missense_Mutation_p.S340C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S291C|CHRNB1_ENST00000575379.1_5'UTR	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	412					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCTGAACTGTCTGCCCCTGAT	0.622000													34	80					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74392365	74392365	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:74392365G>T	ENST00000396049.3	-	4	582	c.389C>A	c.(388-390)aCt>aAt	p.T130N	MOB1A_ENST00000409969.2_Missense_Mutation_p.T130N|MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	130					hippo signaling cascade		metal ion binding|protein binding										AGGAAAAAGAGTTTCATCATC	0.313000													3	15					0.004672	0.00470014	1	1	0
DCN	1634	broad.mit.edu	37	12	91546954	91546954	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr12:91546954G>A	ENST00000052754.5	-	6	1166	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S75F|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S113F|DCN_ENST00000552962.1_Missense_Mutation_p.S222F|DCN_ENST00000393155.1_Missense_Mutation_p.S222F|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.S75F|DCN_ENST00000420120.2_Missense_Mutation_p.S113F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	222					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCCGTAAGGGAAGGAGGAAG	0.353000													26	66					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632751	65632751	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:65632751G>A	ENST00000308110.4	+	14	1811	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MUS81_ENST00000533035.1_Missense_Mutation_p.E413K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	488					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGTGAGTGGGGAGAAGGCAGC	0.642000								Homologous recombination					26	72					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122760789	122760789	+	Silent	SNP	G	G	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr4:122760789G>C	ENST00000264499.4	-	13	1551	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	BBS7_ENST00000506636.1_Silent_p.L456L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	456					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTACCTTGAGTTCCAGCC	0.353000									Bardet-Biedl syndrome				15	36					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32738125	32738127	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr2:32738125_32738127delCTT	ENST00000421745.2	+	54	10606_10608	c.10472_10474delCTT	c.(10471-10476)cct>c	p.PS3491del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3491					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCATCTCCTTCTCATTTGCA	0.453													44	78	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75142141	75142142	+	RNA	INS	-	-	A	rs35519730		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr7:75142141_75142142insA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						gtctcaaaaagaaaaaaaaaaa	0.421													3	6	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													3	5	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139401269	139401270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr9:139401269_139401270insC	ENST00000277541.6	-	23	3874_3875	c.3799_3800insG	c.(3799-3801)tgtfs	p.C1267fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1267	EGF-like 33.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGTTGACATCCCCCTCACAG	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	21	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71724648	71724668	+	In_Frame_Del	DEL	CCTCCTCCCGGAGGCTCTGCA	CCTCCTCCCGGAGGCTCTGCA	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr11:71724648_71724668delCCTCCTCCCGGAGGCTCTGCA	ENST00000393695.3	-	15	4212_4232	c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	c.(3880-3903)gct>g	p.VQSLREEA1294del	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Del_p.VQSLREEA1294del	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1294					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTTTCTCAGCCTCCTCCCGGAGGCTCTGCACCTCCTCCCG	0.638			T	RARA	APL								7	65	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45007673	45007674	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr15:45007673_45007674delAA	ENST00000558401.1	+	2	190_191	c.120_121delAA	c.(118-123)tcatfs	p.SN40fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Del_p.SN40fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.SN40fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	40	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATGGAAAGTCAAATTTCCTGAA	0.401													84	183	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27614198	27614208	+	Frame_Shift_Del	DEL	GATTTCCCTTT	GATTTCCCTTT	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:27614198_27614208delGATTTCCCTTT	ENST00000225388.4	-	2	862_872	c.804_814delAAAGGGAAATC	c.(802-816)cagafs	p.QKGNR268fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	268						nucleus|polysomal ribosome	protein binding|RNA binding	p.R272*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCATCTACTCGATTTCCCTTTTGTTCACTAT	0.431													45	192	---	---	---	---					
LOC100294341	100294341	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr17:43590674_43590675insA	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAAAAAAACAAAAAAAAAAC	0.332													3	4	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8389878	8389879	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:8389878_8389879delTG	ENST00000330915.3	-	8	2103_2104	c.2038_2039delCA	c.(2038-2040)gfs	p.Q680fs	KANK3_ENST00000593649.1_Frame_Shift_Del_p.Q680fs	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	680										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAAGAGTCTCTGGACCACAGCC	0.624													38	102	---	---	---	---					
PODNL1	79883	broad.mit.edu	37	19	14044020	14044020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-T2-A6X2-01A-12D-A34J-08	TCGA-T2-A6X2-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c5d355-84af-4c2e-9ea6-810718b82bfc	11f05511-3cf2-4246-812e-b42367b9501f	g.chr19:14044020delC	ENST00000538517.2	-	6	1008	c.764delG	c.(763-765)gcfs	p.G255fs	PODNL1_ENST00000339560.5_Frame_Shift_Del_p.G346fs|PODNL1_ENST00000254320.3_Frame_Shift_Del_p.G264fs|PODNL1_ENST00000538371.2_Frame_Shift_Del_p.G344fs	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	346	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CAGCCCATTGCCATAGAGGTG	0.721													2	4	---	---	---	---