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
SEMA6D	80031	broad.mit.edu	37	15	48062786	48062786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:48062786G>A	ENST00000316364.5	+	19	2465	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A676T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A614T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A657T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A633T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A614T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A601T|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A620T|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	676					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTTTGGGGGCATTCATTGC	0.468000													5	211					0	0	0.184627	0	0
THSD7A	221981	broad.mit.edu	37	7	11464388	11464388	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:11464388G>A	ENST00000423059.3	-	16	3569	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1106	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACCTTGCAGATGCTCCAGG	0.493000										HNSCC(18;0.044)			43	265					0	0	0.840704	0	0
A2ML1	144568	broad.mit.edu	37	12	9021749	9021749	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:9021749G>C	ENST00000299698.7	+	33	4351	c.4171G>C	c.(4171-4173)Gtg>Ctg	p.V1391L	A2ML1_ENST00000539547.1_Missense_Mutation_p.V900L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1235						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCAACCCCTGGTGAAGAAGGT	0.443000													13	238					0	0	0.435327	0	0
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000539783.1_Silent_p.G202G|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328000													6	112					8.12818e-05	8.72293e-05	0.248553	1	0
RNF217	154214	broad.mit.edu	37	6	125369384	125369384	+	Silent	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:125369384C>A	ENST00000275184.6	+	1	27	c.27C>A	c.(25-27)atC>atA	p.I9I	RNF217_ENST00000560949.1_Intron|RNF217_ENST00000521654.2_Intron|RNF217_ENST00000368414.2_Intron|RNF217_ENST00000359704.2_Intron			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGACTAAGATCTTTGTTCTTT	0.378000													6	16					0.00198382	0.00206192	0.248553	1	0
MMADHC	27249	broad.mit.edu	37	2	150426656	150426656	+	Silent	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:150426656A>T	ENST00000428879.1	-	7	1227	c.723T>A	c.(721-723)acT>acA	p.T241T	MMADHC_ENST00000303319.5_Silent_p.T241T|MMADHC_ENST00000422782.2_Silent_p.T275T			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	241						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TTTCAAAAAGAGTGTTGTTTG	0.343000													12	60					0	0	0.457914	0	0
MTRF1L	54516	broad.mit.edu	37	6	153316432	153316432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:153316432G>A	ENST00000367233.5	-	3	361	c.362C>T	c.(361-363)tCa>tTa	p.S121L	MTRF1L_ENST00000367230.1_Missense_Mutation_p.S121L|MTRF1L_ENST00000464135.1_Intron|MTRF1L_ENST00000367231.5_Missense_Mutation_p.S121L	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	121						mitochondrion	translation release factor activity, codon specific	p.S121L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TGTTTCTTCTGAGGGAACCAA	0.313000													5	48					0	0	0.248553	0	0
INSIG1	3638	broad.mit.edu	37	7	155093339	155093339	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:155093339G>C	ENST00000340368.4	+	3	687	c.476G>C	c.(475-477)aGa>aCa	p.R159T	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	159					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.R159T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATTTAAGAGAGAATGGGCC	0.443000													79	197					0	0	0.870114	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746136	140746136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:140746136C>T	ENST00000518069.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.R747W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627000													49	125					0	0	0.864702	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433815	69433815	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:69433815C>T	ENST00000317746.2	-	1	430	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	130					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AAAACTGCATCTTCACAGAGC	0.348000													66	200					0	0	0.870114	0	0
CADPS	8618	broad.mit.edu	37	3	62388773	62388773	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:62388773G>T	ENST00000383710.4	-	29	4214	c.3865C>A	c.(3865-3867)Cta>Ata	p.L1289I	CADPS_ENST00000283269.9_Missense_Mutation_p.L1250I|CADPS_ENST00000357948.3_Missense_Mutation_p.L1210I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1289	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCTAATTAGTGTTTTCAAC	0.373000													14	35					0.00185496	0.00194329	0.435327	1	0
MUC16	94025	broad.mit.edu	37	19	9060492	9060492	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:9060492G>A	ENST00000397910.4	-	3	27157	c.26954C>T	c.(26953-26955)gCt>gTt	p.A8985V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8987	Ser-rich.|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						CTCAGAGGAAGCAGGTATGGT	0.498000													29	183					0	0	0.740014	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412488	105412488	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:105412488G>A	ENST00000333244.5	-	7	9419	c.9300C>T	c.(9298-9300)ccC>ccT	p.P3100P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3100						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACGTCGGGGGCCGTCA	0.632000													9	292					0	0	0.411799	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935940	82935940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:82935940C>G	ENST00000260047.6	+	6	1422	c.627C>G	c.(625-627)ttC>ttG	p.F209L	ANKRD42_ENST00000531895.1_Missense_Mutation_p.F210L|ANKRD42_ENST00000533342.1_Missense_Mutation_p.F210L|ANKRD42_ENST00000393392.2_Missense_Mutation_p.F182L			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	182										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTTTCAAATTCCTAGTCAGTA	0.343000													3	138					0	0	0.150653	0	0
ZNF845	91664	broad.mit.edu	37	19	53854664	53854664	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:53854664G>A	ENST00000458035.1	+	4	853	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ZNF845_ENST00000595091.1_Missense_Mutation_p.D246N	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATATAAATGTGATGTGTGTGG	0.368000													8	75					0	0	0.278610	0	0
PXN	5829	broad.mit.edu	37	12	120651735	120651735	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:120651735T>C	ENST00000397506.3	-	8	1908	c.855A>G	c.(853-855)gcA>gcG	p.A285A	PXN_ENST00000228307.7_Silent_p.A473A|PXN_ENST00000458477.2_Silent_p.A306A|PXN_ENST00000267257.7_Silent_p.A487A|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.A439A|PXN_ENST00000536957.1_Silent_p.A471A			P49023	PAXI_HUMAN	paxillin	473					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.A439A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACACTTGGGTGCGAACATGT	0.602000													3	10					0	0	0.184627	0	0
ADRB3	155	broad.mit.edu	37	8	37823588	37823588	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:37823588C>A	ENST00000345060.3	-	1	895	c.400G>T	c.(400-402)Gac>Tac	p.D134Y		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	134					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	AGGTAGCGGTCCACGGCCAGG	0.692000													8	10					1.12685e-05	1.22929e-05	0.307466	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884881	24884881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:24884881G>A	ENST00000382554.3	+	9	4244	c.3926G>A	c.(3925-3927)tGc>tAc	p.C1309Y		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1309					DNA integration	integral to membrane	DNA binding	p.C1309Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACGTTCGTCTGCATCCACATG	0.617000													129	147					0	0	0.870114	0	0
SLFN5	162394	broad.mit.edu	37	17	33592377	33592377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33592377G>T	ENST00000299977.4	+	5	2294	c.2146G>T	c.(2146-2148)Ggt>Tgt	p.G716C	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	716					cell differentiation		ATP binding	p.G716C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CCGCAATGCAGGTCCAATAGC	0.507000													34	91					2.08457e-15	2.45681e-15	0.750413	1	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			44	30					0	0	0.870114	0	0
RBL2	5934	broad.mit.edu	37	16	53515593	53515593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:53515593C>T	ENST00000262133.6	+	21	3232	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1032					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGGATGCTCCTCCACTCTCT	0.333000													4	37					0	0	0.150653	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144316	35144316	+	RNA	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:35144316C>T	ENST00000436258.1	-	0	1750																											ACATCTTTAGCCTCATAATTA	0.348000													8	54					0	0	0.278610	0	0
NLRP8	126205	broad.mit.edu	37	19	56466469	56466469	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:56466469C>A	ENST00000291971.3	+	3	1116	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T	NLRP8_ENST00000590542.1_Missense_Mutation_p.P349T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	349	NACHT.					cytoplasm	ATP binding	p.P349T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTGAAATGTCCCTCTCTCGT	0.453000													13	168					0.000219431	0.000233588	0.457914	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	122					0	0	0.575678	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													3	33					0	0	0.150653	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326355	25326355	+	RNA	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:25326355T>G	ENST00000546682.1	+	0	55				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CCAGAGGCTGTTGGGATCCTC	0.507000													10	25					0	0	0.479597	0	0
OR5T3	390154	broad.mit.edu	37	11	56020106	56020106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:56020106T>C	ENST00000303059.3	+	1	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GAATGTTTTCTCTTGGCTGCA	0.403000													115	226					0	0	0.870114	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							TTTGTGACTTCAAGAACCCTG	0.458000													3	50					0	0	0.335167	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590840	83590840	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:83590840G>A	ENST00000265362.3	-	17	2477	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	SEMA3A_ENST00000436949.1_Silent_p.F721F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	721					axon guidance	extracellular region|membrane	receptor activity	p.F721F(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTGTTCACAGAACTCATCCA	0.453000													16	176					0	0	0.479597	0	0
PBRM1	55193	broad.mit.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:52651513T>A	ENST00000356770.4	-	13	1489	c.1487A>T	c.(1486-1488)aAt>aTt	p.N496I	PBRM1_ENST00000394830.3_Missense_Mutation_p.N528I|PBRM1_ENST00000409114.3_Missense_Mutation_p.N543I|PBRM1_ENST00000296302.7_Missense_Mutation_p.N528I|PBRM1_ENST00000410007.1_Missense_Mutation_p.N528I|PBRM1_ENST00000409767.1_Missense_Mutation_p.N543I|PBRM1_ENST00000337303.4_Missense_Mutation_p.N528I|PBRM1_ENST00000409057.1_Missense_Mutation_p.N528I			Q86U86	PB1_HUMAN	polybromo 1	528					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.N528fs*41(2)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								33	51					0	0	0.769981	0	0
GPR12	2835	broad.mit.edu	37	13	27333678	27333678	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:27333678C>T	ENST00000405846.3	-	2	508	c.287G>A	c.(286-288)gGa>gAa	p.G96E	GPR12_ENST00000381436.2_Missense_Mutation_p.G96E	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	96						integral to plasma membrane		p.G96E(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGTGATGAGTCCAATGCCGGC	0.547000													39	75					0	0	0.847076	0	0
CRK	1398	broad.mit.edu	37	17	1340132	1340132	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:1340132C>T	ENST00000300574.2	-	2	699	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CRK_ENST00000398970.5_Missense_Mutation_p.V187I|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	187	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TACTTCTCGACGTAAGGGACT	0.577000													25	128					0	0	0.681144	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	111					0	0	0.150653	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361788	140361788	+	Missense_Mutation	SNP	C	C	T	rs28415505		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:140361788C>T	ENST00000406427.1	-	26	3356	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R588Q|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R982Q	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	982	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTGCTTGGCCCGGATCCGCAT	0.672000													18	39					0	0	0.520397	0	0
ASTN1	460	broad.mit.edu	37	1	176838011	176838011	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:176838011T>G	ENST00000367654.2	-	22	3653	c.3640A>C	c.(3640-3642)Acc>Ccc	p.T1214P	ASTN1_ENST00000367657.3_Missense_Mutation_p.T1206P|ASTN1_ENST00000424564.2_Missense_Mutation_p.T1206P|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1206P			O14525	ASTN1_HUMAN	astrotactin 1	1214					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATCGCCAGGTGAATTCCCCA	0.473000													8	142					0	0	0.307466	0	0
CSMD2	114784	broad.mit.edu	37	1	34117999	34117999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:34117999G>A	ENST00000373381.4	-	28	4686	c.4510C>T	c.(4510-4512)Ccc>Tcc	p.P1504S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P377S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1464	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1464S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGGGTAGGGTTCTGGGTAA	0.567000													34	108					0	0	0.779181	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481346	142481346	+	RNA	SNP	T	T	C	rs137999173	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:142481346T>C	ENST00000603901.1	+	0	420					NR_001296.3																						CCGAGTGCCTTATCTCCGGCT	0.567000													3	39					0	0	0.361761	0	0
PLCH1	23007	broad.mit.edu	37	3	155301387	155301387	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:155301387C>T	ENST00000460012.1	-	6	912	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLCH1_ENST00000340059.7_Silent_p.E203E|PLCH1_ENST00000447496.2_Silent_p.E203E|PLCH1_ENST00000414191.1_Silent_p.E185E|PLCH1_ENST00000494598.1_Silent_p.E203E|PLCH1_ENST00000334686.6_Silent_p.E185E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	203	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E185E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACACAGAACTCTTCAAATG	0.358000													35	58					0	0	0.779181	0	0
TJP3	27134	broad.mit.edu	37	19	3738943	3738943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:3738943G>A	ENST00000541714.2	+	13	1904	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	TJP3_ENST00000262968.9_Missense_Mutation_p.R514H|TJP3_ENST00000382008.3_Missense_Mutation_p.R495H|TJP3_ENST00000587686.1_Missense_Mutation_p.R500H|TJP3_ENST00000589378.1_Missense_Mutation_p.R490H|TJP3_ENST00000539908.2_Missense_Mutation_p.R445H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	495						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTACATCCGCACTCACTTT	0.647000													4	97					0	0	0.150653	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481342	142481342	+	RNA	SNP	G	G	C	rs146962136	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:142481342G>C	ENST00000603901.1	+	0	416					NR_001296.3																						GGCACCGAGTGCCTTATCTCC	0.557000													3	40					0	0	0.150653	0	0
LOC100134368	100134368	broad.mit.edu	37	16	437203	437203	+	RNA	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:437203G>C	ENST00000412293.1	+	0	521					NR_024453.2																						ACGATGCGTTGGATGTTGCCA	0.413000													8	112					0	0	0.335167	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953378	2953378	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:2953378A>C	ENST00000380520.1	-	4	2467	c.473T>G	c.(472-474)tTg>tGg	p.L158W	SERPINB6_ENST00000380529.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380524.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000380546.3_Missense_Mutation_p.L158W|SERPINB6_ENST00000380539.1_Missense_Mutation_p.L158W|SERPINB6_ENST00000335686.5_Missense_Mutation_p.L158W			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	158					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	p.L158W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	475					0	0	0.853193	0	0
IKZF3	22806	broad.mit.edu	37	17	37922445	37922445	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:37922445G>A	ENST00000346872.3	-	8	1189	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G	IKZF3_ENST00000377958.2_Silent_p.G289G|IKZF3_ENST00000351680.3_Silent_p.G337G|IKZF3_ENST00000535189.1_Silent_p.G342G|IKZF3_ENST00000467757.1_Silent_p.G320G|IKZF3_ENST00000439167.2_Silent_p.G303G|IKZF3_ENST00000394189.2_Silent_p.G194G|IKZF3_ENST00000583368.1_Silent_p.G129G|IKZF3_ENST00000377944.3_Silent_p.G233G|IKZF3_ENST00000377945.3_Silent_p.G242G|IKZF3_ENST00000377952.2_Silent_p.G155G|IKZF3_ENST00000346243.3_Silent_p.G298G|IKZF3_ENST00000350532.3_Silent_p.G337G|IKZF3_ENST00000439016.2_Silent_p.G281G	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	376					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G376G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGAGAGAGGCCTCTCTCAG	0.532000													15	199					0	0	0.479597	0	0
MUC21	394263	broad.mit.edu	37	6	30954455	30954455	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954455C>G	ENST00000376296.3	+	2	744	c.503C>G	c.(502-504)tCt>tGt	p.S168C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	168	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S168C(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.607000													77	317					0	0	0.870114	0	0
GRM3	2913	broad.mit.edu	37	7	86394556	86394556	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:86394556A>G	ENST00000361669.2	+	2	1194	c.95A>G	c.(94-96)gAg>gGg	p.E32G	GRM3_ENST00000394720.2_Missense_Mutation_p.E30G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E32G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	32					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTAAGGAGAGAGATTAAAATA	0.408000													7	204					0	0	0.248553	0	0
PRDM9	56979	broad.mit.edu	37	5	23510109	23510109	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:23510109G>T	ENST00000296682.3	+	4	456	c.274G>T	c.(274-276)Gat>Tat	p.D92Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	92					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGATTCTGATGAAGAATG	0.433000										HNSCC(3;0.000094)			11	85					2.80697e-09	3.25018e-09	0.387290	1	0
SLFN11	91607	broad.mit.edu	37	17	33679727	33679727	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33679727A>G	ENST00000394566.1	-	7	2626	c.2354T>C	c.(2353-2355)gTg>gCg	p.V785A	SLFN11_ENST00000308377.4_Missense_Mutation_p.V785A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	785						nucleus	ATP binding	p.V785A(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATTTGCTCCACAGTCAAGTA	0.488000													13	46					0	0	0.411799	0	0
SETD2	29072	broad.mit.edu	37	3	47164649	47164649	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:47164649G>A	ENST00000409792.3	-	3	1519	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTACAGTCCCGATCAGATTTA	0.383000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	46					0	0	0.115264	0	0
EPHA7	2045	broad.mit.edu	37	6	93955046	93955046	+	Missense_Mutation	SNP	G	G	T	rs141581954		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:93955046G>T	ENST00000369303.4	-	16	3036	c.2852C>A	c.(2851-2853)tCc>tAc	p.S951Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S951F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTCAAGGGAATTGTAGCC	0.338000													5	82					0.184627	0.187468	0.184627	1	0
SYP	6855	broad.mit.edu	37	X	49049871	49049871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:49049871G>A	ENST00000263233.4	-	5	545	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SYP_ENST00000479808.1_Missense_Mutation_p.S158L|SYP_ENST00000538567.1_Missense_Mutation_p.S40L	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	158	MARVEL.		S -> L.		regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCCCATGCCGATGAGCTAAC	0.562000													11	10					0	0	0.387290	0	0
VDAC1	7416	broad.mit.edu	37	5	133326807	133326807	+	Silent	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:133326807G>C	ENST00000265333.3	-	4	400	c.156C>G	c.(154-156)acC>acG	p.T52T	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Silent_p.T52T|VDAC1_ENST00000395047.2_Silent_p.T52T	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	52					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCGTCACTTTGGTGGTCTCAG	0.488000													32	167					0	0	0.740014	0	0
NPY5R	4889	broad.mit.edu	37	4	164272513	164272513	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:164272513C>A	ENST00000515560.1	+	4	2610	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	NPY5R_ENST00000338566.3_Missense_Mutation_p.S363Y|NPY5R_ENST00000506953.1_Missense_Mutation_p.S363Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	363					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.S363Y(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAAAGAGATCTCGAAGTGTT	0.358000													16	110					0.000422831	0.00044651	0.500413	1	0
ATP1A2	477	broad.mit.edu	37	1	160100019	160100019	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:160100019A>G	ENST00000361216.3	+	12	1678	c.1589A>G	c.(1588-1590)gAg>gGg	p.E530G	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E530G|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	530					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGACAAGGAGATGCAAGAT	0.612000													4	194					0	0	0.150653	0	0
LRFN5	145581	broad.mit.edu	37	14	42357171	42357171	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:42357171A>C	ENST00000554171.1	+	5	3775	c.1343A>C	c.(1342-1344)cAa>cCa	p.Q448P	LRFN5_ENST00000298119.4_Missense_Mutation_p.Q448P|LRFN5_ENST00000554120.1_Missense_Mutation_p.Q448P			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	448	Fibronectin type-III.					integral to membrane		p.Q448P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGTATGTTTCAAATCCAGTAC	0.323000										HNSCC(30;0.082)			27	36					0	0	0.740014	0	0
PDE4B	5142	broad.mit.edu	37	1	66379018	66379018	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:66379018G>T	ENST00000329654.4	+	2	208	c.21G>T	c.(19-21)gtG>gtT	p.V7V	PDE4B_ENST00000371049.3_Silent_p.V7V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	7					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V7V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCAGGAGTGTGATGACGGTGA	0.393000													33	95					1.8453e-21	2.19441e-21	0.853193	1	0
MUC21	394263	broad.mit.edu	37	6	30954441	30954441	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954441C>T	ENST00000376296.3	+	2	730	c.489C>T	c.(487-489)agC>agT	p.S163S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	163	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S163S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTGAGGCCAGCACAGCCACCA	0.617000													71	290					0	0	0.870114	0	0
VPS35	55737	broad.mit.edu	37	16	46717472	46717472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:46717472T>C	ENST00000299138.7	-	2	108	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	17					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TATGGCTTCATCCAAGAGCTT	0.458000													20	78					0	0	0.624587	0	0
UNC45A	55898	broad.mit.edu	37	15	91491052	91491052	+	Silent	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:91491052A>G	ENST00000394275.2	+	14	2317	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	UNC45A_ENST00000418476.2_Silent_p.G509G	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	509					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTCGGCTGGAGGGACTGACT	0.577000													4	54					0	0	0.387290	0	0
FAM126B	285172	broad.mit.edu	37	2	201881853	201881853	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:201881853C>G	ENST00000418596.2	-	5	381	c.194G>C	c.(193-195)cGt>cCt	p.R65P		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	65						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTCTGAGCTACGATAGAGCTC	0.423000													8	81					0	0	0.278610	0	0
FAT4	79633	broad.mit.edu	37	4	126369690	126369690	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:126369690G>T	ENST00000394329.3	+	9	7532	c.7519G>T	c.(7519-7521)Ggt>Tgt	p.G2507C	FAT4_ENST00000335110.5_Missense_Mutation_p.G805C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2507	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2507C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTCTTTCGGGTAGAAATTC	0.423000													9	129					2.17888e-05	2.35747e-05	0.335167	1	0
BEND4	389206	broad.mit.edu	37	4	42145872	42145872	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:42145872G>A	ENST00000502486.1	-	3	1206	c.627C>T	c.(625-627)aaC>aaT	p.N209N	BEND4_ENST00000504360.1_Silent_p.N205N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	209								p.N205N(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGTCTTTCGTTGTAACTTG	0.443000													11	38					0	0	0.361761	0	0
FLG	2312	broad.mit.edu	37	1	152279679	152279679	+	Missense_Mutation	SNP	C	C	A	rs143745201		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:152279679C>A	ENST00000368799.1	-	3	7718	c.7683G>T	c.(7681-7683)agG>agT	p.R2561S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2561	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2561R(1)|p.R2561S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCAGTTCCTGCTTGTCC	0.587000									Ichthyosis				129	327					1.49341e-58	1.80853e-58	0.870114	1	0
CDKL4	344387	broad.mit.edu	37	2	39456583	39456583	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:39456583C>G	ENST00000378803.1	-	1	90	c.91G>C	c.(91-93)Gct>Cct	p.A31P	CDKL4_ENST00000395035.3_Missense_Mutation_p.A31P	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	31	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTTTAACAGCTACTACTTGT	0.323000													4	199					0	0	0.184627	0	0
FAM47C	442444	broad.mit.edu	37	X	37029320	37029320	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:37029320A>T	ENST00000358047.3	+	1	2889	c.2837A>T	c.(2836-2838)aAg>aTg	p.K946M		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	946								p.K946M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCAAGCCTAAGTTGGGGAAA	0.453000													49	50					0	0	0.870114	0	0
TMC4	147798	broad.mit.edu	37	19	54667422	54667422	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:54667422T>C	ENST00000416963.1	-	1	3	c.4A>G	c.(4-6)Aag>Gag	p.K2E	TMC4_ENST00000376591.4_Intron|TMC4_ENST00000301187.4_Intron			Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	0						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCCACCCTTCATCATTCCC	0.552000											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	112					0	0	0.248553	0	0
CDR2	1039	broad.mit.edu	37	16	22361124	22361124	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:22361124T>A	ENST00000268383.2	-	3	546	c.239A>T	c.(238-240)cAt>cTt	p.H80L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	80						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACCTTTGCATGTTGTTCGTT	0.428000													63	148					0	0	0.870114	0	0
TRIM69	140691	broad.mit.edu	37	15	45047248	45047248	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:45047248A>G	ENST00000559390.1	+	3	1085	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.M53V|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	53	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGACCCACTGATGCTAAGCTG	0.458000													18	151					0	0	0.520397	0	0
NEB	4703	broad.mit.edu	37	2	152580789	152580789	+	Silent	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:152580789G>C	ENST00000427231.2	-	8	799	c.597C>G	c.(595-597)acC>acG	p.T199T	NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000172853.10_Silent_p.T199T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	199					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAACATGGCGGTGTTCTTAA	0.453000													7	31					0	0	0.307466	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919954	97919954	+	RNA	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:97919954A>T	ENST00000534948.1	+	0	4732							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCAAGAAGAAAAGCAACATTG	0.373000													7	23					0	0	0.248553	0	0
STK3	6788	broad.mit.edu	37	8	99468078	99468078	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:99468078T>G	ENST00000523601.1	-	13	1951	c.1552A>C	c.(1552-1554)Aac>Cac	p.N518H	STK3_ENST00000419617.2_Missense_Mutation_p.N490H	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	490					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	p.N490H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACTCAAAAGTTTTGCTGCCTT	0.388000													6	55					0	0	0.217242	0	0
ASPM	259266	broad.mit.edu	37	1	197070075	197070075	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:197070075A>C	ENST00000367409.4	-	18	8562	c.8306T>G	c.(8305-8307)aTt>aGt	p.I2769S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2769					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGGTTAACAATGGCTGCCAT	0.378000													6	190					0	0	0.278610	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813001	49813001	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:49813001G>A	ENST00000454748.3	-	5	984	c.783C>T	c.(781-783)ggC>ggT	p.G261G	SLC6A16_ENST00000335875.4_Silent_p.G261G			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	261						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTGGTGACCCGCCATCCTCGA	0.537000													4	63					0	0	0.150653	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339217	25339217	+	RNA	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:25339217G>C	ENST00000546682.1	+	0	1110				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TGCATTCCTTGGAAAGCTGAA	0.398000													11	173					0	0	0.387290	0	0
ZNF135	7694	broad.mit.edu	37	19	58579671	58579671	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:58579671G>C	ENST00000506786.1	+	5	2247	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	ZNF135_ENST00000401053.4_Missense_Mutation_p.E631Q|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.E607Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.E619Q|ZNF135_ENST00000313434.5_Missense_Mutation_p.E607Q			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	619					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAGCCCTATGAGTGTCACGA	0.557000													5	167					0	0	0.217242	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979372	124979372	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:124979372G>A	ENST00000368417.1	+	4	374	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	NKAIN2_ENST00000368416.1_Missense_Mutation_p.R105Q|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R90Q	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	105						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCAATGCACCGATCTTGGTGG	0.463000													20	95					0	0	0.681144	0	0
ELTD1	64123	broad.mit.edu	37	1	79385868	79385868	+	Splice_Site	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:79385868C>G	ENST00000370742.3	-	10	1524	c.1461_splice	c.e10+1	p.K487_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	487					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.K487N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCTACATACCTTATTAGTAT	0.313000													18	67					0	0	0.520397	0	0
FSIP2	401024	broad.mit.edu	37	2	186670189	186670189	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:186670189C>G	ENST00000343098.5	+	17	16423	c.16423C>G	c.(16423-16425)Cag>Gag	p.Q5475E	FSIP2_ENST00000424728.1_Missense_Mutation_p.Q5386E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCTCTAACCCAGAAGGCAAT	0.363000													5	207					0	0	0.184627	0	0
C8B	732	broad.mit.edu	37	1	57415367	57415367	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:57415367C>A	ENST00000543257.1	-	7	1135	c.569G>T	c.(568-570)cGc>cTc	p.R190L	C8B_ENST00000371237.4_Missense_Mutation_p.R242L|C8B_ENST00000535057.1_Missense_Mutation_p.R180L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGACATTGCGTTCAAAATC	0.343000													3	77					0.115264	0.117945	0.115264	1	0
ACADSB	36	broad.mit.edu	37	10	124800144	124800144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:124800144G>T	ENST00000358776.4	+	4	480	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Nonsense_Mutation_p.E54*	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	156					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATGGAACAGAAGAACAAAA	0.368000													14	135					2.23348e-06	2.54155e-06	0.500413	1	0
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Splice_Site	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:103730859C>A	ENST00000453744.2	-	4	603	c.88_splice	c.e4-1	p.M30_splice	UBE2D3_ENST00000394801.4_Splice_Site_p.M30_splice|UBE2D3_ENST00000394803.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000343106.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000504211.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000349311.8_Splice_Site_p.M30_splice|UBE2D3_ENST00000502404.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000505207.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000350435.7_Splice_Site_p.M24_splice|UBE2D3_ENST00000338145.3_Splice_Site_p.M30_splice|UBE2D3_ENST00000321805.7_Splice_Site_p.M30_splice|UBE2D3_ENST00000507845.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000394804.2_Splice_Site_p.M30_splice|UBE2D3_ENST00000357194.6_Splice_Site_p.M32_splice	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	30					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GCCAATGAAACACTAGAAAAA	0.284000													8	36					1.12685e-05	1.22929e-05	0.307466	1	0
TENM1	10178	broad.mit.edu	37	X	123587207	123587207	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:123587207A>G	ENST00000422452.2	-	23	4147	c.4084T>C	c.(4084-4086)Tca>Cca	p.S1362P	TENM1_ENST00000371130.3_Missense_Mutation_p.S1355P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCATTCCTGAGTCACAGCTC	0.413000													4	98					0	0	0.217242	0	0
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Splice_Site	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:57876368T>G	ENST00000510355.1	+	1	28		c.e1+2		POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353000													7	8					0	0	0.654019	0	0
EIF3A	8661	broad.mit.edu	37	10	120809363	120809363	+	Missense_Mutation	SNP	G	G	A	rs150064739		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120809363G>A	ENST00000369144.3	-	17	2735	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EIF3A_ENST00000541549.1_Missense_Mutation_p.R836W|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	870	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCTACGCCGTTCTCGTTCT	0.403000													103	274					0	0	0.870114	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263354	232263354	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:232263354C>T	ENST00000287590.5	+	2	1185	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	308					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCCGGCAGCCTGGCCCGGC	0.652000													13	15					0	0	0.457914	0	0
TLK2	11011	broad.mit.edu	37	17	60657496	60657496	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:60657496T>C	ENST00000582809.1	+	16	1567	c.864T>C	c.(862-864)aaT>aaC	p.N288N	TLK2_ENST00000326270.9_Silent_p.N459N|TLK2_ENST00000542523.1_Silent_p.N405N|TLK2_ENST00000346027.5_Silent_p.N437N|TLK2_ENST00000343388.7_Silent_p.N405N			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	459					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.N459N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CAACGCTAAATGACAGATATT	0.383000													16	63					0	0	0.592651	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922758	108922758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:108922758G>T	ENST00000375887.4	+	2	588	c.410G>T	c.(409-411)gGt>gTt	p.G137V	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.G137V|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G137V	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	137					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	p.G137V(1)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GCCGTTCAGGGTCCAGAAGAA	0.463000													18	64					1.33834e-09	1.56337e-09	0.557998	1	0
RAET1E	135250	broad.mit.edu	37	6	150210664	150210664	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:150210664G>T	ENST00000532335.1	-	4	788	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RAET1E_ENST00000529948.1_Missense_Mutation_p.L148I|RAET1E_ENST00000357183.4_Missense_Mutation_p.L148I|RAET1E_ENST00000367363.3_Missense_Mutation_p.L112I|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	148	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCAAAGAGGAGGGATTTCTCT	0.468000													6	162					1.12685e-05	1.22929e-05	0.307466	1	0
ZBBX	79740	broad.mit.edu	37	3	167000124	167000124	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:167000124T>C	ENST00000392766.2	-	19	2379	c.2039A>G	c.(2038-2040)gAt>gGt	p.D680G	ZBBX_ENST00000307529.5_Missense_Mutation_p.D719G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D719G|ZBBX_ENST00000392764.1_Missense_Mutation_p.D651G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D680G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	680						intracellular	zinc ion binding	p.D719G(1)|p.D680G(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCAGTAATATCAATATATTC	0.383000													18	162					0	0	0.539581	0	0
PCDH9	5101	broad.mit.edu	37	13	67802500	67802500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:67802500C>A	ENST00000544246.1	-	2	764	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E25*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E25*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E25*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E25*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E25*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAAATAAGTTCTTGAGCTATT	0.408000													39	72					4.46736e-08	5.12776e-08	0.812448	1	0
EIF3A	8661	broad.mit.edu	37	10	120820798	120820798	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120820798C>A	ENST00000369144.3	-	8	1292	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.D355Y|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	389	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTGTAAAGGTCTTTCACTTCT	0.348000													19	92					8.00594e-06	8.9558e-06	0.557998	1	0
PCNXL2	80003	broad.mit.edu	37	1	233388475	233388475	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:233388475T>G	ENST00000258229.8	-	6	2128	c.1894A>C	c.(1894-1896)Agt>Cgt	p.S632R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	632						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)				TGCTTAGAACTGTGTCCACTG	0.408000													7	161					0	0	0.248553	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734565	79734565	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:79734565C>T	ENST00000338008.5	+	3	2241	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ZFYVE16_ENST00000510158.1_Silent_p.I687I|ZFYVE16_ENST00000505560.1_Silent_p.I687I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	687					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGTTCCAATCACTTGTGCTA	0.403000													4	128					0	0	0.184627	0	0
MEP1A	4224	broad.mit.edu	37	6	46802421	46802421	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:46802421C>G	ENST00000230588.4	+	12	1725	c.1716C>G	c.(1714-1716)tcC>tcG	p.S572S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	572	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTTTCATTTCCCACCAAATGC	0.438000													6	183					0	0	0.217242	0	0
FYB	2533	broad.mit.edu	37	5	39110492	39110492	+	Splice_Site	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:39110492C>G	ENST00000351578.6	-	16	2454		c.e16-1		FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAACCATCTACGAAGGAA	0.308000													5	49					0	0	0.217242	0	0
GSTM2	2946	broad.mit.edu	37	1	110211613	110211613	+	Splice_Site	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:110211613T>A	ENST00000369831.2	+	3	271		c.e3+2		GSTM2_ENST00000414179.2_Splice_Site|GSTM2_ENST00000464206.1_Splice_Site|GSTM2_ENST00000241337.4_Splice_Site|GSTM2_ENST00000460717.3_Splice_Site|GSTM2_ENST00000369827.3_Splice_Site|GSTM2_ENST00000369829.2_Splice_Site|GSTM2_ENST00000442650.1_Splice_Site					glutathione S-transferase mu 2 (muscle)									p.?(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTCCCAATGTAGGTGCAGGG	0.517000													20	106					0	0	0.706142	0	0
AKAP5	9495	broad.mit.edu	37	14	64935861	64935861	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:64935861T>A	ENST00000320636.5	+	1	2037	c.749T>A	c.(748-750)cTt>cAt	p.L250H	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.L250H|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	250					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GCAAGCCCACTTGAAACTTCA	0.418000													135	93					0	0	0.870114	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413947	139413947	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:139413947G>A	ENST00000277541.6	-	5	888	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	271	EGF-like 7; calcium-binding (Potential).				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)		CGTCCACACAGGCACCCCCGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			41	126					0	0	0.819951	0	0
CARD6	84674	broad.mit.edu	37	5	40854367	40854367	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:40854367A>T	ENST00000254691.5	+	3	3132	c.2933A>T	c.(2932-2934)cAg>cTg	p.Q978L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	978	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTCAGTCCCAGCCCTCCCAA	0.532000													12	513					0	0	0.387290	0	0
PTPRT	11122	broad.mit.edu	37	20	40743873	40743873	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:40743873G>T	ENST00000373198.3	-	23	3366	c.3131C>A	c.(3130-3132)gCa>gAa	p.A1044E	PTPRT_ENST00000373190.1_Missense_Mutation_p.A1021E|PTPRT_ENST00000373193.3_Missense_Mutation_p.A1025E|PTPRT_ENST00000373201.1_Missense_Mutation_p.A1012E|PTPRT_ENST00000373187.1_Missense_Mutation_p.A1022E|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1031E|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1032E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1022	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A1044E(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACGTATTCTGCCAGGGGCTC	0.522000													30	143					4.23469e-30	5.08163e-30	0.779181	1	0
SIX6	4990	broad.mit.edu	37	14	60976178	60976178	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:60976178T>C	ENST00000327720.5	+	1	510	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	21					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGTGAGACCCTGGAAGAGAGC	0.662000													10	107					0	0	0.361761	0	0
SAPCD1	401251	broad.mit.edu	37	6	31731931	31731931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31731931G>A	ENST00000415669.2	+	3	405	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000425424.1_Missense_Mutation_p.E116K|MSH5_ENST00000534153.4_3'UTR	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN	suppressor APC domain containing 1	116																	TCTGATTCATGAGAAGGTGAG	0.443000													27	227					0	0	0.693898	0	0
RIOK2	55781	broad.mit.edu	37	5	96503521	96503521	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:96503521C>G	ENST00000283109.3	-	8	1115	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Silent_p.G349G	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	349	Protein kinase.		G -> R (in dbSNP:rs160632).				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)		CATTTTCTGACCCGTAAACCT	0.393000													50	279					0	0	0.870114	0	0
SUPT4H1	6827	broad.mit.edu	37	17	56429452	56429452	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:56429452G>A	ENST00000225504.3	-	1	111	c.45C>T	c.(43-45)gcC>gcT	p.A15A	BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.A15A|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|SUPT4H1_ENST00000577396.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	15	Interaction with SUPT5H.				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCAAACAGGCCCGCAGAT	0.632000													15	78					0	0	0.500413	0	0
OR2J2	26707	broad.mit.edu	37	6	29141542	29141542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29141542C>G	ENST00000377167.2	+	1	232	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GACAGGAAACCTGTTCATCAT	0.428000													57	315					0	0	0.870114	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129338	52129338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:52129338C>G	ENST00000222107.4	-	8	1549	c.1411G>C	c.(1411-1413)Ggg>Cgg	p.G471R	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G471R|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G471R|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G471R|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G471R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	471					cell adhesion	integral to membrane	sugar binding	p.G471R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTGGTCTCCCAGCTGCTTGC	0.547000													11	120					0	0	0.387290	0	0
C17orf98	388381	broad.mit.edu	37	17	36997562	36997562	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:36997562G>A	ENST00000398575.4	-	1	146	c.81C>T	c.(79-81)cgC>cgT	p.R27R		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	27								p.R27R(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCCCATAAGCGCGGGCAGCGG	0.637000													4	85					0	0	0.150653	0	0
OR5L2	26338	broad.mit.edu	37	11	55594746	55594746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55594746T>C	ENST00000378397.1	+	1	52	c.52T>C	c.(52-54)Tca>Cca	p.S18P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTTGGACTATCAGATGTCCC	0.453000										HNSCC(27;0.073)			17	393					0	0	0.654019	0	0
CCDC14	64770	broad.mit.edu	37	3	123633809	123633809	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:123633809C>T	ENST00000485727.1	-	9	6671	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	CCDC14_ENST00000310351.4_Silent_p.V733V|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000433542.2_Silent_p.V852V|CCDC14_ENST00000489746.1_Silent_p.V693V|CCDC14_ENST00000488653.2_Silent_p.V893V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	893						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATTGCCTTTCACTTGAAGGC	0.458000													11	48					0	0	0.361761	0	0
RAB37	326624	broad.mit.edu	37	17	72741163	72741163	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:72741163T>C	ENST00000340415.3	+	8	1494	c.485T>C	c.(484-486)tTc>tCc	p.F162S	RAB37_ENST00000402449.4_Missense_Mutation_p.F162S|RAB37_ENST00000392614.4_Missense_Mutation_p.F174S|RAB37_ENST00000528438.1_Missense_Mutation_p.F142S|RAB37_ENST00000392612.3_Missense_Mutation_p.F132S|RAB37_ENST00000392615.5_Missense_Mutation_p.F137S|RAB37_ENST00000392610.1_Missense_Mutation_p.F169S|RAB37_ENST00000392613.5_Missense_Mutation_p.F169S	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	169					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGTGTTCCCTTCCTGGAGACC	0.627000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	72					0	0	0.248553	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763885	110763885	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:110763885A>C	ENST00000368919.3	-	4	811	c.745T>G	c.(745-747)Ttt>Gtt	p.F249V	SLC22A16_ENST00000330550.4_Missense_Mutation_p.F215V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.F249V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	249					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.F249V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTGCAAAAAAGGAATGCAAA	0.483000													24	80					0	0	0.639603	0	0
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:26608878_26608883delCCGGGA	ENST00000314675.7	-	11	1189_1194	c.1110_1115delTCCCGG	c.(1108-1116)ggc>gg	p.GPG370del	UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	490						cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													34	102	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	69	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146892481	146892482	+	RNA	DEL	CA	CA	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:146892481_146892482delCA	ENST00000473299.1	-	0	132																											TTACCACATTcacacacacaca	0.351													2	4	---	---	---	---					
LRRC34	151827	broad.mit.edu	37	3	169514642	169514643	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:169514642_169514643delAG	ENST00000522526.2	-	7	1139_1140	c.702_703delCT	c.(700-705)cagtfs	p.HC234fs	LRRC34_ENST00000316515.7_Frame_Shift_Del_p.HC221fs|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Frame_Shift_Del_p.HC205fs|LRRC34_ENST00000446859.1_Frame_Shift_Del_p.HC266fs			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	221										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCAACAAGACAGTGATTTTCTT	0.351													20	214	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													8	48	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	276	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													2	4	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													8	85	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88767684	88767686	+	RNA	DEL	TCT	TCT	-	rs71019446		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCttttttttttt	0.414													4	5	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													9	81	---	---	---	---					
ACACB	32	broad.mit.edu	37	12	109698310	109698323	+	Frame_Shift_Del	DEL	TGGAGCCTACATCG	TGGAGCCTACATCG	-	rs142275188		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:109698310_109698323delTGGAGCCTACATCG	ENST00000338432.7	+	48	6641_6654	c.6522_6535delTGGAGCCTACATCG	c.(6520-6537)tttgfs	p.FGAYIV2174fs	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Frame_Shift_Del_p.FGAYIV2104fs|ACACB_ENST00000377848.3_Frame_Shift_Del_p.FGAYIV2174fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2174	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCTGAAGTTTGGAGCCTACATCGTGGACGGCCT	0.542													31	185	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)ttfs	p.I1110fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					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)		AAGGCTTCAATTTTTTTTGCC	0.383													7	500	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													74	146	---	---	---	---					
RASGRP1	10125	broad.mit.edu	37	15	38786881	38786881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:38786881delC	ENST00000310803.5	-	16	2138	c.1961delG	c.(1960-1962)gafs	p.G654fs	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.G606fs|RASGRP1_ENST00000450598.2_Frame_Shift_Del_p.G619fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.G705fs|RASGRP1_ENST00000559830.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	654					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.G654fs*11(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGACACTCCCATCAGCAT	0.527													27	19	---	---	---	---					
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)accfs	p.T449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490													14	237	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													7	5	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:56056587_56056589delTGT	ENST00000584396.1	-	5	1123_1125	c.1035_1037delACA	c.(1033-1038)cat>ca	p.QH345del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473													7	370	---	---	---	---					
ANKRD20A5P	440482	broad.mit.edu	37	18	14183579	14183580	+	RNA	INS	-	-	AC			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr18:14183579_14183580insAC	ENST00000581935.1	+	0	501																				lung(3)	3						ATTCAGTTTTTAATTACATGAA	0.347													7	70	---	---	---	---					
SAMD10	140700	broad.mit.edu	37	20	62608688	62608706	+	Frame_Shift_Del	DEL	AGTGGCAGGGGATGCTCTC	AGTGGCAGGGGATGCTCTC	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC	ENST00000369886.3	-	2	319_337	c.145_163delGAGAGCATCCCCTGCCACT	c.(145-165)tgfs	p.ESIPCHL49fs	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCCGAGGCAAGTGGCAGGGGATGCTCTCAGCTGACACC	0.658													18	97	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085955	11085957	+	RNA	DEL	CAT	CAT	-	rs75434111	by1000genomes	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr21:11085955_11085957delCAT	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)		ccaccaccaccatcaacaccacA	0.502													5	5	---	---	---	---					
NF2	4771	broad.mit.edu	37	22	30057317	30057318	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:30057317_30057318insGT	ENST00000338641.4	+	8	1240_1241	c.799_800insGT	c.(799-801)tgafs	p.*267fs	NF2_ENST00000403999.3_Frame_Shift_Ins_p.*267fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.*226fs|NF2_ENST00000361676.4_Frame_Shift_Ins_p.*225fs|NF2_ENST00000347330.5_Frame_Shift_Ins_p.*108fs|NF2_ENST00000334961.7_Frame_Shift_Ins_p.*184fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Frame_Shift_Ins_p.*267fs|NF2_ENST00000403435.1_Frame_Shift_Ins_p.*267fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.*184fs|NF2_ENST00000361166.4_Frame_Shift_Ins_p.*267fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	267	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.N226_E270del(1)|p.D268fs*29(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CATCTCGTACAGTGACAAGGAG	0.554			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				86	77	---	---	---	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGA	rs71803583		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:38483189_38483190insGGTCATGGA	ENST00000381669.3	-	11	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)acccat>acTCCATGACCccat	p.400_401TH>TP*PH		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	400					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658													7	37	---	---	---	---					
VCX	26609	broad.mit.edu	37	X	7811912	7811941	+	In_Frame_Del	DEL	AGGTGGAGGAACCACTGAGTCAGGAGAGCC	AGGTGGAGGAACCACTGAGTCAGGAGAGCC	-	rs145553375	byFrequency	TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:7811912_7811941delAGGTGGAGGAACCACTGAGTCAGGAGAGCC	ENST00000381059.3	+	3	695_724	c.476_505delAGGTGGAGGAACCACTGAGTCAGGAGAGCC	c.(475-507)gag>g	p.EVEEPLSQESQ159del	VCX_ENST00000341408.4_In_Frame_Del_p.EVEEPLSQESQ139del	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	159	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.E161E(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGA	0.587													42	137	---	---	---	---