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
SIGLEC10	89790	broad.mit.edu	37	19	51919218	51919218	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:51919218G>A	ENST00000353836.5	-	5	1179	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R237C|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R320C|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R320C|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R262C|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R262C|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R272C	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	320	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGTGTAGCGCCCTGAATCC	0.667000													16	100					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713313	42713313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr6:42713313C>A	ENST00000244625.2	-	2	1062	c.499G>T	c.(499-501)Gac>Tac	p.D167Y	TBCC_ENST00000372876.1_Missense_Mutation_p.D167Y			Q15814	TBCC_HUMAN	tubulin folding cofactor C	167					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCGGGGAGTCCTGTATGCTT	0.597000													4	10					0.00116845	0.00135746	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52394425	52394425	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr3:52394425C>T	ENST00000420323.2	+	28	4931	c.4670C>T	c.(4669-4671)aCg>aTg	p.T1557M		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1557	AAA 1 (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)		CTGGTGATCACGCCCCTCACC	0.542000													9	27					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225727416	225727416	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr2:225727416C>A	ENST00000409592.3	-	14	1745	c.1632G>T	c.(1630-1632)ttG>ttT	p.L544F	DOCK10_ENST00000258390.7_Missense_Mutation_p.L550F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	550							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTATTTTCCCAATTTGCTGC	0.338000													3	17					0.00909568	0.0101205	1	1	0
CDH9	1007	broad.mit.edu	37	5	26881671	26881671	+	Silent	SNP	T	T	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:26881671T>A	ENST00000231021.4	-	12	2116	c.1944A>T	c.(1942-1944)tcA>tcT	p.S648S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	648					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATCGTCTTTTGAAATTATCA	0.408000													44	61					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2123820	2123820	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr9:2123820C>T	ENST00000382203.1	+	27	4073	c.3864C>T	c.(3862-3864)gaC>gaT	p.D1288D	SMARCA2_ENST00000382194.1_Silent_p.D1288D|SMARCA2_ENST00000349721.2_Silent_p.D1288D|SMARCA2_ENST00000357248.2_Silent_p.D1288D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1288					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTAAGGATGACGCTGAAGTAG	0.582000													7	11					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717984	45717984	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr20:45717984C>A	ENST00000327619.5	+	8	1142	c.768C>A	c.(766-768)agC>agA	p.S256R	EYA2_ENST00000357410.3_Missense_Mutation_p.S256R|EYA2_ENST00000317304.6_Missense_Mutation_p.S256R	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	256					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTAAGAGGAGCAGTGACCCGT	0.577000													11	170					5.50884e-06	6.69536e-06	1	1	0
BCAS3	54828	broad.mit.edu	37	17	59469431	59469431	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr17:59469431C>T	ENST00000588462.1	+	25	2798	c.2798C>T	c.(2797-2799)cCg>cTg	p.P933L	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Missense_Mutation_p.P896L|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000390652.5_Missense_Mutation_p.P911L|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000588874.1_Missense_Mutation_p.P667L|BCAS3_ENST00000585744.1_Missense_Mutation_p.P682L|BCAS3_ENST00000408905.3_Missense_Mutation_p.P918L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	911						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TACCGATCTCCGCTGCCCACC	0.597000													14	55					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61895495	61895495	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr17:61895495C>G	ENST00000578681.1	+	19	3155	c.2554C>G	c.(2554-2556)Cgt>Ggt	p.R852G	DDX42_ENST00000457800.2_Missense_Mutation_p.R852G|DDX42_ENST00000389924.2_Missense_Mutation_p.R852G|DDX42_ENST00000359353.5_Missense_Mutation_p.R733G|DDX42_ENST00000583590.1_Missense_Mutation_p.R852G|DDX42_ENST00000582985.1_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	852	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AAGCAGCAGCCGTCATACTGA	0.587000													5	75					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													4	36					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229173	3229173	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chrX:3229173C>G	ENST00000217939.6	-	7	7225	c.7071G>C	c.(7069-7071)caG>caC	p.Q2357H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2357	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATAGGGCACCTGAACCGCCA	0.562000													21	36					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160225119	160225119	+	Splice_Site	SNP	A	A	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr6:160225119A>T	ENST00000275275.5	+	5	509	c.339_splice	c.e5+1	p.K113_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.K124_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	113						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AACTATAACAAGGTATGGCAT	0.463000													36	60					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	39					0	0	1	0	0
RAB2A	5862	broad.mit.edu	37	8	61533286	61533286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr8:61533286A>T	ENST00000529579.1	+	7	512	c.485A>T	c.(484-486)cAg>cTg	p.Q162L	RAB2A_ENST00000262646.7_Silent_p.A199A|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Silent_p.A175A			P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	69					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			CAACACATGCAGGCAATCAGG	0.473000													22	53					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221613	59221613	+	Silent	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr18:59221613G>A	ENST00000262717.4	+	12	2489	c.2091G>A	c.(2089-2091)acG>acA	p.T697T	CDH20_ENST00000536675.2_Silent_p.T697T|CDH20_ENST00000538374.1_Silent_p.T697T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCCCAAGACGCGGCAGGACA	0.692000													6	59					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr9:41962602G>C	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													9	27					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49459546	49459546	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:49459546C>G	ENST00000293288.8	+	4	325	c.325C>G	c.(325-327)Cgg>Ggg	p.R109G	BAX_ENST00000415969.2_Missense_Mutation_p.R109G|BAX_ENST00000345358.7_Missense_Mutation_p.R109G|BAX_ENST00000539787.1_Missense_Mutation_p.R109G|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.R60G	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	109					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAACTGGGGCCGGGTTGTCGC	0.592000													33	71					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687522	136687522	+	Missense_Mutation	SNP	C	C	T	rs148369326		TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr6:136687522C>T	ENST00000354570.3	-	9	1342	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	MAP7_ENST00000432797.2_Missense_Mutation_p.R165Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R333Q|MAP7_ENST00000544465.1_Missense_Mutation_p.R296Q|MAP7_ENST00000438100.2_Missense_Mutation_p.R296Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	311					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TACAGCCCTTCGGGTGCCAGA	0.428000													14	38					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30897813	30897813	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr20:30897813G>A	ENST00000375712.3	+	2	400	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	78	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGACGTTCCGACCACTTGTT	0.488000													10	47					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092661	79092661	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr15:79092661G>A	ENST00000388820.4	-	2	539	c.329C>T	c.(328-330)aCg>aTg	p.T110M	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	110					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						gcgccgccgcgTCTCGCTCAC	0.726000													6	8					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129431953	129431953	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr12:129431953G>A	ENST00000442111.2	+	10	818	c.730G>A	c.(730-732)Gcg>Acg	p.A244T	GLT1D1_ENST00000542193.1_Missense_Mutation_p.A161T|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A164T|GLT1D1_ENST00000537468.1_Missense_Mutation_p.A249T			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	244					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GAATTGCTTCGCGGTGGTGAA	0.483000													20	29					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73444901	73444901	+	Silent	SNP	T	T	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr14:73444901T>C	ENST00000556143.1	-	7	2181	c.1461A>G	c.(1459-1461)aaA>aaG	p.K487K	ZFYVE1_ENST00000555072.1_Silent_p.K72K|ZFYVE1_ENST00000554145.1_Intron|ZFYVE1_ENST00000394207.2_Silent_p.K72K|ZFYVE1_ENST00000318876.5_Silent_p.K487K|ZFYVE1_ENST00000553891.1_Silent_p.K487K	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	487						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAGCAGATGTTTTGGGCACTA	0.448000													11	71					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56480333	56480333	+	Silent	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr6:56480333G>A	ENST00000370765.6	-	24	8039	c.7932C>T	c.(7930-7932)agC>agT	p.S2644S	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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)			AATAGTAGAGGCTAGAAATTC	0.398000													12	19					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581228	7581228	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr6:7581228G>A	ENST00000379802.3	+	23	5146	c.4805G>A	c.(4804-4806)aGg>aAg	p.R1602K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1602	Central fibrous rod domain.				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)		GAAGGCATGAGGAGGTCGCTG	0.552000													9	36					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913342	28913342	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr16:28913342C>T	ENST00000395503.4	+	16	2443	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	ATP2A1_ENST00000536376.1_Silent_p.I628I|ATP2A1_ENST00000357084.3_Silent_p.I753I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	753					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCGCGCCATCTACAACAACA	0.607000													14	40					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563328	140563328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:140563328G>T	ENST00000361016.2	+	1	2349	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCAGTCAAGAACTTTTACA	0.463000													12	49					2.27111e-07	2.8479e-07	1	1	0
PAPLN	89932	broad.mit.edu	37	14	73721320	73721320	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr14:73721320C>T	ENST00000427855.1	+	13	1504	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	PAPLN_ENST00000381166.3_Missense_Mutation_p.R468W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R441W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R468W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R468W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	468	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGGAAGACCGGCCACCTCT	0.617000													20	100					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109052654	109052654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr12:109052654C>A	ENST00000261401.3	-	5	662	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	CORO1C_ENST00000541050.1_Nonsense_Mutation_p.E164*|CORO1C_ENST00000549772.1_Nonsense_Mutation_p.E170*|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Nonsense_Mutation_p.E59*|CORO1C_ENST00000420959.2_Nonsense_Mutation_p.E217*	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	164					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATAAGGGCTTCCCCTGTTCCC	0.418000													12	90					0.00136819	0.00156648	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32630895	32630895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr22:32630895G>A	ENST00000266086.4	-	8	861	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	284					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTGTAATGGGCATTCCAAAT	0.473000													26	102					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632699	24632699	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr14:24632699C>T	ENST00000396864.3	+	4	764	c.477C>T	c.(475-477)ctC>ctT	p.L159L	IRF9_ENST00000557894.1_Silent_p.L57L|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	159					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGTGCTCCAGGACTCCC	0.532000													31	77					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72008719	72008719	+	Splice_Site	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr12:72008719C>T	ENST00000378743.3	-	29	5614		c.e29-1			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGACAAAGGCTGTTTAAAAA	0.338000													25	52					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968587	69968587	+	Missense_Mutation	SNP	T	T	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr12:69968587T>G	ENST00000299293.2	+	10	1889	c.1379T>G	c.(1378-1380)cTt>cGt	p.L460R	FRS2_ENST00000549921.1_Missense_Mutation_p.L460R|FRS2_ENST00000397997.2_Missense_Mutation_p.L460R|FRS2_ENST00000550389.1_Missense_Mutation_p.L460R	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	460					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACAACTCCCCTTCCACAAACC	0.488000													27	59					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358033	209358033	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr2:209358033C>T	ENST00000272847.2	+	13	1515	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	434						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGAACCTCTCCGTGGACTGGA	0.587000													8	41					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432689	55432689	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr11:55432689C>A	ENST00000314259.3	+	1	76	c.47C>A	c.(46-48)aCa>aAa	p.T16K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTGGGTCTCACAGAGAACCTG	0.378000													7	82					1.06961e-07	1.36289e-07	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39565214	39565214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr14:39565214G>A	ENST00000307712.6	-	2	626	c.109C>T	c.(109-111)Cct>Tct	p.P37S	SEC23A_ENST00000553970.1_Missense_Mutation_p.P37S|SEC23A_ENST00000548032.2_Missense_Mutation_p.P37S|SEC23A_ENST00000545328.2_Missense_Mutation_p.P37S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.P37S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	37					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GCTGCCACAGGAACAACCATT	0.433000													34	51					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15026555	15026555	+	Silent	SNP	T	T	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chrY:15026555T>C	ENST00000336079.3	+	8	859	c.753T>C	c.(751-753)gcT>gcC	p.A251A	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Silent_p.A251A	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	251	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTTTGAAGGCTGTGAAGGTAA	0.373000													21	9					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39034067	39034067	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:39034067C>T	ENST00000355481.4	+	84	11886	c.11755C>T	c.(11755-11757)Cgg>Tgg	p.R3919W	RYR1_ENST00000360985.3_Missense_Mutation_p.R3919W|RYR1_ENST00000359596.3_Missense_Mutation_p.R3924W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3924					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTACCTCCTGCGGCTGCAGGT	0.582000													41	58					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191812	66191812	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr11:66191812C>A	ENST00000311034.2	+	7	1627	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	484					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTAACTAGCCCACTGCAAGGC	0.557000													55	220					1.38909e-20	1.82897e-20	1	1	0
LAMB3	3914	broad.mit.edu	37	1	209788688	209788688	+	Silent	SNP	T	T	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr1:209788688T>A	ENST00000391911.1	-	22	3836	c.3447A>T	c.(3445-3447)ggA>ggT	p.G1149G	LAMB3_ENST00000356082.4_Silent_p.G1149G|LAMB3_ENST00000367030.3_Silent_p.G1149G	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1149	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTTCTCCAGTCCTGTCAGGT	0.602000													29	67					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503202	96503202	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:96503202A>G	ENST00000283109.3	-	8	1434	c.1366T>C	c.(1366-1368)Tcg>Ccg	p.S456P	RIOK2_ENST00000508447.1_Missense_Mutation_p.S456P|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	456	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTTAATGACGACAAGGCAATT	0.393000													17	55					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													4	43					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45547949	45547949	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr21:45547949C>T	ENST00000291576.7	+	18	2404	c.2277C>T	c.(2275-2277)ttC>ttT	p.F759F	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	759						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGCAGGACTTCACCAGGGCCA	0.662000													15	35					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49073856	49073856	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr13:49073856C>T	ENST00000344532.3	-	13	1708	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D155N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D434N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	429	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCTACAATATCATCCTCGTTA	0.458000													19	22					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170322	113170322	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr9:113170322C>T	ENST00000401783.2	-	38	7894	c.7558G>A	c.(7558-7560)Gtt>Att	p.V2520I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2497I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V446I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2520	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGTAGGTAACGGTCTGTCCA	0.488000													5	23					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425756	77425756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr15:77425756C>T	ENST00000560626.2	-	6	4143	c.3668G>A	c.(3667-3669)cGc>cAc	p.R1223H	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1223H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1223					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTCTCCTTGCGCAAAGGCCT	0.493000													8	41					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629554	9629554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:9629554C>A	ENST00000382492.2	-	1	909	c.591G>T	c.(589-591)ttG>ttT	p.L197F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	197					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGAGAAAATCAAGAGCAAAA	0.488000													16	35					0.000566183	0.000667589	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33662112	33662112	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:33662112T>C	ENST00000504830.1	-	6	1284	c.949A>G	c.(949-951)Aca>Gca	p.T317A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T317A|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	317	Peptidase M12B.				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						CTAGACAGTGTCTTTTCTGCA	0.488000										HNSCC(64;0.19)			22	48					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403985	20403985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr14:20403985C>A	ENST00000285600.4	+	1	219	c.160C>A	c.(160-162)Cat>Aat	p.H54N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTTGACTCCCATTTGAACTC	0.363000													24	131					6.36457e-07	7.85627e-07	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18043893	18043893	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr17:18043893C>T	ENST00000205890.5	+	20	5612	c.5274C>T	c.(5272-5274)agC>agT	p.S1758S	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1758	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGGCAAGAGCAGCTCCGTCA	0.652000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	60					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640389	57640389	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:57640389G>T	ENST00000254181.4	+	4	800	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	USP29_ENST00000598197.1_Missense_Mutation_p.D116Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	116					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTGATGATGATTGGAGTGT	0.353000													5	52					1	1	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20970610	20970610	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr16:20970610C>T	ENST00000261383.3	-	54	10716	c.10717G>A	c.(10717-10719)Ggg>Agg	p.G3573R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3573	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCAGGTCCCGTCTTTGATG	0.527000													15	122					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72742687	72742687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr7:72742687C>A	ENST00000252037.4	+	2	236	c.167C>A	c.(166-168)tCg>tAg	p.S56*	FKBP6_ENST00000413573.2_Nonsense_Mutation_p.S56*|FKBP6_ENST00000431982.2_Nonsense_Mutation_p.S51*	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	56	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGATGCTTCGGTGCTAGGT	0.572000													8	44					0.000157383	0.000188383	1	1	0
SLC36A1	206358	broad.mit.edu	37	5	150856269	150856269	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:150856269T>A	ENST00000243389.3	+	9	1164	c.941T>A	c.(940-942)tTt>tAt	p.F314Y	SLC36A1_ENST00000520701.1_Missense_Mutation_p.F314Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F314Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	314					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TACCTGCAATTTGGAGCTAAT	0.498000													9	35					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342643	122342643	+	Silent	SNP	C	C	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr7:122342643C>T	ENST00000434824.1	-	1	378	c.162G>A	c.(160-162)tcG>tcA	p.S54S	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	54						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTCCTAATTCCGATGTGATCT	0.443000													5	31					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12902749	12902749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:12902749C>A	ENST00000302754.4	+	1	440	c.164C>A	c.(163-165)gCt>gAt	p.A55D		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	55						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						GCGCCTGGGGCTCGCGGACCC	0.672000													5	14					0.014758	0.0157552	1	1	0
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	C	T	rs2072454	byFrequency	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr7:55214348C>T	ENST00000275493.2	+	4	651	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	158					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.N158N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGTGCAACGTGGAGAGCA	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			3	30					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204691	9204691	+	Silent	SNP	C	C	T	rs140970574	by1000genomes	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:9204691C>T	ENST00000429566.3	+	1	837	c.771C>T	c.(769-771)ggC>ggT	p.G257G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCACCATTGGCGTCTATCTGT	0.557000													24	109					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167675295	167675295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:167675295G>T	ENST00000519204.1	+	26	7106	c.6988G>T	c.(6988-6990)Gag>Tag	p.E2330*	TENM2_ENST00000520394.1_Nonsense_Mutation_p.E2212*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.E2450*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.E2275*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.E2451*					teneurin transmembrane protein 2																		CGTGGGCAAGGAGCCGGCCCC	0.517000													7	34					0.0381472	0.039653	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876516	27876517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr1:27876516_27876517insC	ENST00000374011.2	-	6	3078_3079	c.2110_2111insG	c.(2110-2112)ggtfs	p.G704fs	AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.G704fs|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	704	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CACGGCCACCACCTTCTTTTTC	0.658													11	32	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127477568	127477578	+	Frame_Shift_Del	DEL	CGTAACAGAGC	CGTAACAGAGC	-	rs111727169	byFrequency	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr5:127477568_127477578delCGTAACAGAGC	ENST00000262461.2	+	10	1857_1867	c.1668_1678delCGTAACAGAGC	c.(1666-1680)attafs	p.IVTEL556fs	SLC12A2_ENST00000343225.4_Frame_Shift_Del_p.IVTEL556fs	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	556					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.I556I(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGACACTATCGTAACAGAGCTAACAAACTG	0.374													17	54	---	---	---	---					
MAGI2	9863	broad.mit.edu	37	7	79082367	79082368	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr7:79082367_79082368insT	ENST00000354212.4	-	1	522_523	c.269_270insA	c.(268-270)agafs	p.R90fs	MAGI2_ENST00000522391.1_Frame_Shift_Ins_p.R90fs|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Ins_p.R90fs	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	90	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGAGGGGGTCCTTGCAGTGTTT	0.639													12	46	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													7	136	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													3	6	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	66	---	---	---	---					
C19orf12	83636	broad.mit.edu	37	19	30193879	30193879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr19:30193879delC	ENST00000323670.9	-	3	305	c.166delG	c.(166-168)ctfs	p.A56fs	C19orf12_ENST00000392278.2_Frame_Shift_Del_p.A67fs|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Del_p.A56fs|C19orf12_ENST00000392275.1_5'UTR	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	56						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCGACAGCCCCCCCTAGA	0.527													17	80	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-A47B-01A-11D-A24D-08	TCGA-44-A47B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb72eaea-8596-4b3e-a97f-b6e4b16354ca	8bcafdb1-1dff-414d-8757-bfce69701a7e	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													11	210	---	---	---	---					
