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
DSCAML1	57453	broad.mit.edu	37	11	117395574	117395574	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:117395574C>T	ENST00000321322.6	-	5	1064	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E85K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	295	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGGTGACCTCACAAATGTAG	0.637000													5	16					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131870	142131870	+	RNA	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:142131870G>T	ENST00000390375.2	-	0	48																											GAGGAGCCCGGGGCCCATGGC	0.607000													16	75					4.7546e-09	5.17232e-09	1	1	0
LRP1	4035	broad.mit.edu	37	12	57560824	57560824	+	Missense_Mutation	SNP	C	C	T	rs137909502		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:57560824C>T	ENST00000243077.3	+	18	3375	c.2909C>T	c.(2908-2910)tCg>tTg	p.S970L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	970	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S970L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGTCTGCTTCGTGTGGTAAG	0.637000													11	61					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84780158	84780158	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:84780158G>A	ENST00000389394.3	+	10	1739	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	DNAH6_ENST00000237449.6_Splice_Site_p.L534L|DNAH6_ENST00000398278.2_Splice_Site_p.L534L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	534	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAGACTTTCTGGTGTGTGTTT	0.413000													20	127					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111128	29111128	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr18:29111128G>A	ENST00000261590.8	+	9	1402	c.1193G>A	c.(1192-1194)aGc>aAc	p.S398N		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	398	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATTTATGTTAGCGAGAGCATG	0.403000													14	77					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837368	40837368	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:40837368C>T	ENST00000264638.4	+	5	862	c.645C>T	c.(643-645)gcC>gcT	p.A215A	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	215	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGCACGCCGAGGGCGCCC	0.662000													10	55					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545856	22545856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:22545856C>T	ENST00000424340.1	+	7	1831	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	NPIPB5_ENST00000517539.1_Nonsense_Mutation_p.Q518*|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TTCCGAGCGTCAGCTCACTGC	0.572000													23	252					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53699842	53699842	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:53699842G>C	ENST00000267103.5	+	4	692	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	C12orf10_ENST00000549488.1_Missense_Mutation_p.E51Q|C12orf10_ENST00000548632.1_Intron	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	214										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CCAAGACACTGAGGTAAGGTG	0.567000													18	80					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181591	119181591	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:119181591C>G	ENST00000264036.4	-	14	1682	c.1668G>C	c.(1666-1668)gaG>gaC	p.E556D	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	556					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGCCCCGGCTCTCCGGCTCCG	0.627000													46	77					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934576	28934576	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr18:28934576C>T	ENST00000257192.4	+	15	2629	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.T165I	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	806					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTCGGCACTACCACAGTAATT	0.522000													83	28					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330766	30330766	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:30330766G>A	ENST00000389194.2	-	14	2832	c.2827C>T	c.(2827-2829)Cat>Tat	p.H943Y	LTN1_ENST00000361371.5_Missense_Mutation_p.H897Y	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	897							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAGACAAATGTAGGAAGGTA	0.353000													15	100					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183584433	183584433	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:183584433C>T	ENST00000317096.4	-	3	502	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	PARL_ENST00000311101.5_Missense_Mutation_p.E148K|PARL_ENST00000435888.1_Missense_Mutation_p.E148K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	148					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGTCTCCTTCTTTTTGTGGT	0.353000													28	81					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	468822	468822	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:468822C>T	ENST00000280886.6	-	5	633	c.546G>A	c.(544-546)caG>caA	p.Q182Q	DIP2C_ENST00000381496.3_Silent_p.Q75Q	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	182						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCCCCCGCTCTGCGTAGAGG	0.632000													51	37					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701566	143701566	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:143701566G>T	ENST00000408922.2	+	1	545	c.477G>T	c.(475-477)aaG>aaT	p.K159N		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCCTGGCGAAGATCTACTTCA	0.527000													29	61					1.13719e-10	1.26321e-10	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209271823	209271823	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:209271823T>A	ENST00000272847.2	+	1	268	c.55T>A	c.(55-57)Tgc>Agc	p.C19S	PTH2R_ENST00000413482.1_Intron	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	19						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCTCGGCAGCTGCCTCCTGGC	0.677000													16	52					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19398286	19398286	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:19398286G>A	ENST00000263208.5	-	2	309	c.53C>T	c.(52-54)tCa>tTa	p.S18L	HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.S18L|HIRA_ENST00000546308.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	18					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AATATCAACTGAAAAAATCGG	0.388000													35	138					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546281	112546281	+	Silent	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:112546281C>A	ENST00000488794.1	-	5	889	c.300G>T	c.(298-300)ggG>ggT	p.G100G	CD200R1L_ENST00000398214.1_Silent_p.G121G|CD200R1L_ENST00000448932.1_Silent_p.G100G			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	121	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTCTGTAATACCCGTCATGAG	0.463000													22	133					1.96292e-10	2.17471e-10	1	1	0
MFN2	9927	broad.mit.edu	37	1	12061891	12061891	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:12061891G>C	ENST00000235329.5	+	10	1358	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	MFN2_ENST00000444836.1_Missense_Mutation_p.E346Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	346					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAGGAGATTTGAGGTGAGTCC	0.507000											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	134					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74526059	74526059	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:74526059C>G	ENST00000355780.5	-	8	933	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	STAU2_ENST00000521451.1_Missense_Mutation_p.E51Q|STAU2_ENST00000523558.1_Missense_Mutation_p.E99Q|STAU2_ENST00000521210.1_Missense_Mutation_p.E167Q|STAU2_ENST00000521727.1_Missense_Mutation_p.E251Q|STAU2_ENST00000524300.1_Missense_Mutation_p.E271Q|STAU2_ENST00000519961.1_Missense_Mutation_p.E271Q|STAU2_ENST00000522695.1_Missense_Mutation_p.E239Q|STAU2_ENST00000522509.1_Missense_Mutation_p.E239Q|STAU2_ENST00000517542.1_Missense_Mutation_p.E233Q	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	271	DRBM 3.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTTTAAGCTCCTGTAAGACG	0.403000													15	53					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140033626	140033626	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:140033626C>G	ENST00000417647.2	+	6	647	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	170					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATTTTGCTCTGCTTCAAAA	0.488000													4	8					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335472	10335472	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:10335472G>A	ENST00000590320.1	-	2	220	c.110C>T	c.(109-111)tCg>tTg	p.S37L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	37					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATGAAGGCCGAGGCCACCTG	0.547000													33	124					0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605507	209605507	+	RNA	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:209605507C>T	ENST00000384891.1	+	0	30					NR_029622.1																						ATGTGCTTCTCTTGTCCTTCA	0.527000													62	58					0	0	1	0	0
GTF2IRD2B	389524	broad.mit.edu	37	7	74564126	74564126	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:74564126G>A	ENST00000312575.7	+	16	2048	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.V172M	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|ovary(2)|prostate(1)	4						cccagcgatggtggatgccaa	0.502000													37	47					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438225	23438225	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:23438225G>A	ENST00000248996.4	+	2	1009	c.343G>A	c.(343-345)Gag>Aag	p.E115K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	115						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGGCCCCGCTGAGAGCAAGGG	0.687000													17	70					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124209607	124209607	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:124209607C>T	ENST00000360013.3	+	30	4584	c.4457C>T	c.(4456-4458)cCg>cTg	p.P1486L	KALRN_ENST00000460856.1_Missense_Mutation_p.P1477L|KALRN_ENST00000240874.3_Missense_Mutation_p.P1486L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1486	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGTGGGACCCGAAGTCGCTG	0.512000													42	49					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71010034	71010034	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:71010034C>T	ENST00000357250.6	-	3	302	c.144G>A	c.(142-144)agG>agA	p.R48R	COL9A1_ENST00000370496.3_Silent_p.R48R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	48	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTGGCCAATCCTGATCTTTG	0.373000													17	66					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768523	31768523	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:31768523G>T	ENST00000240587.4	-	2	2503	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	726					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGACTGACTGCAGGGCGCTC	0.597000													13	70					1.49906e-05	1.56601e-05	1	1	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41286319	41286319	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:41286319G>A	ENST00000594136.1	+	3	232	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	RAB4B_ENST00000357052.2_Missense_Mutation_p.V43M|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000594800.1_Missense_Mutation_p.V43M																							CACAATCGGCGTGGAGTTTGG	0.592000													3	21					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423806	47423806	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:47423806A>G	ENST00000404338.3	+	1	1874	c.1874A>G	c.(1873-1875)aAg>aGg	p.K625R		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	625					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AATGATGACAAGTATGTGATA	0.453000													19	110					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76348604	76348604	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:76348604C>T	ENST00000312916.7	+	9	1821	c.1439C>T	c.(1438-1440)aCa>aTa	p.T480I		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	480	FHA.				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CAAAATGGCACAATTGTTAAT	0.308000													7	43					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340281	5340281	+	Missense_Mutation	SNP	C	C	T	rs148542712	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:5340281C>T	ENST00000396872.3	+	10	1599	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R466W|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R480W			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCCAAGCAGCGGGAGCTGGC	0.682000													9	33					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27845064	27845064	+	Silent	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:27845064G>C	ENST00000354914.3	-	2	554	c.69C>G	c.(67-69)tcC>tcG	p.S23S	SCARA5_ENST00000518030.1_Silent_p.S23S|SCARA5_ENST00000301906.4_Silent_p.S23S|SCARA5_ENST00000380385.2_Silent_p.S23S|SCARA5_ENST00000524352.1_Silent_p.S23S	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	23					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.S23S(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TGCCATCAAAGGAATCCTCAC	0.557000													27	63					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277728	152277728	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:152277728C>T	ENST00000368799.1	-	3	9669	c.9634G>A	c.(9634-9636)Gga>Aga	p.G3212R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3212	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ACACTGGATCCCTGGCGCCTG	0.552000									Ichthyosis				53	232					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134080428	134080428	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:134080428C>T	ENST00000514516.1	-	6	1853	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	AMOTL2_ENST00000422605.2_Missense_Mutation_p.E501K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E501K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E501K	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	501										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCCGCTTCTCACAGGCTGCC	0.652000													20	32					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122955	32122955	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:32122955C>T	ENST00000422437.1	+	3	523	c.332C>T	c.(331-333)tCg>tTg	p.S111L	PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.S117L|PPT2_ENST00000324816.6_Missense_Mutation_p.S111L|PPT2_ENST00000395523.1_Missense_Mutation_p.S111L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.S111L|PPT2_ENST00000445576.2_Missense_Mutation_p.S111L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.S111L																							ATCTGCTACTCGCAGGGTAGG	0.572000													13	17					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12869076	12869076	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:12869076C>T	ENST00000456430.2	+	13	3389	c.3348C>T	c.(3346-3348)gaC>gaT	p.D1116D	CAND2_ENST00000295989.5_Silent_p.D999D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1116					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGTGGAGGACGGGCTGAAGG	0.582000													25	75					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059908	49059908	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:49059908G>A	ENST00000326925.6	+	2	1341	c.207G>A	c.(205-207)atG>atA	p.M69I	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.M12I|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.M12I|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.M12I	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	69					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGGCTTCATGATAAACGGAA	0.632000													23	20					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055435	9055435	+	Silent	SNP	G	G	A	rs145531861	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:9055435G>A	ENST00000383836.3	-	16	2332	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	SRGAP3_ENST00000360413.3_Silent_p.F611F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	635	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGAGGAAAGCGAAGAGGTATC	0.542000			T	RAF1	pilocytic astrocytoma								7	65					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697025	127697025	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:127697025C>G	ENST00000368695.1	+	8	859	c.737C>G	c.(736-738)tCt>tGt	p.S246C	FANK1_ENST00000368693.1_Missense_Mutation_p.S252C|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	252						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATGAGAGTCTCTGCGGTGTCG	0.498000													16	44					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332013	186332013	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:186332013C>T	ENST00000367478.4	-	6	948	c.652G>A	c.(652-654)Gag>Aag	p.E218K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTAGAATCTCATTCCCTTTT	0.318000			T	NTRK1	papillary thyroid								19	18					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862585	73862585	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:73862585G>C	ENST00000287226.8	-	7	1158	c.971C>G	c.(970-972)tCt>tGt	p.S324C	NPTN_ENST00000545878.1_Silent_p.L340L|NPTN_ENST00000351217.6_Silent_p.L224L|NPTN_ENST00000562924.1_Silent_p.L224L|NPTN_ENST00000563691.1_Silent_p.L340L|NPTN_ENST00000542234.1_Silent_p.L135L|NPTN_ENST00000345330.4_Silent_p.L340L			Q9Y639	NPTN_HUMAN	neuroplastin	0	Ig-like 3.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGAAAGGCCAGAGTGGGGCCA	0.527000													9	54					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19838908	19838908	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:19838908A>G	ENST00000507958.1	-	5	1178	c.188T>C	c.(187-189)tTa>tCa	p.L63S	CDH18_ENST00000511273.1_Missense_Mutation_p.L63S|CDH18_ENST00000506372.1_Missense_Mutation_p.L63S|CDH18_ENST00000382275.1_Missense_Mutation_p.L63S|CDH18_ENST00000502796.1_Missense_Mutation_p.L63S|CDH18_ENST00000274170.4_Missense_Mutation_p.L63S			Q13634	CAD18_HUMAN	cadherin 18, type 2	63	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTCTTCTAAAACAAAGAA	0.398000													46	18					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228191	31228191	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:31228191G>A	ENST00000302964.3	-	1	489	c.159C>T	c.(157-159)acC>acT	p.T53T	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	53	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCTTGTCGGTGAGGTCCA	0.657000													9	44					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638568	56638568	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:56638568C>G	ENST00000267116.7	-	24	2711	c.2590G>C	c.(2590-2592)Gcc>Ccc	p.A864P		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	864							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AAGGCAGCGGCGTGAAGGGGG	0.572000													13	42					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75379325	75379325	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:75379325G>A	ENST00000434603.2	-	1	154	c.90C>T	c.(88-90)ttC>ttT	p.F30F	MAP6_ENST00000304771.3_Silent_p.F30F|MAP6_ENST00000526740.1_Intron	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	30						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTACTTGGTGAAAACCAGCG	0.716000													8	27					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100205199	100205199	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:100205199C>T	ENST00000395996.1	+	17	2540	c.2429C>T	c.(2428-2430)gCa>gTa	p.A810V	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.A810V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A810V|VPS13B_ENST00000358544.2_Missense_Mutation_p.A810V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	810					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTTGCAAGCAATATATCAA	0.383000													17	71					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866295	110866295	+	Silent	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:110866295A>T	ENST00000265171.5	+	5	1249	c.804A>T	c.(802-804)acA>acT	p.T268T	EGF_ENST00000509793.1_Silent_p.T268T|EGF_ENST00000503392.1_Silent_p.T268T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	268					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAATGAAGACAATTTGGATAG	0.368000													15	57					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58262271	58262271	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:58262271C>G	ENST00000317178.5	+	2	415	c.152C>G	c.(151-153)tCt>tGt	p.S51C	ZNF776_ENST00000431353.1_Missense_Mutation_p.S51C|AC003006.7_ENST00000594684.1_Missense_Mutation_p.S51C	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ACACTTATATCTTCTCTAGGT	0.468000													15	44					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33906752	33906752	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:33906752C>T	ENST00000307296.3	+	17	2639	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P	PDCD6IP_ENST00000457054.2_Silent_p.P759P			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	754	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AGCCCCAGCCCCCAGCCAGGC	0.468000													33	56					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2432499	2432499	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:2432499C>T	ENST00000325327.3	-	9	1567	c.1505G>A	c.(1504-1506)aGa>aAa	p.R502K	LMNB2_ENST00000582871.1_Missense_Mutation_p.R482K			Q03252	LMNB2_HUMAN	lamin B2	482	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTTGATTCTCCAGTTCCC	0.632000													18	48					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113488948	113488948	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:113488948A>G	ENST00000487903.1	+	15	1693	c.1605A>G	c.(1603-1605)atA>atG	p.I535M	ATP11A_ENST00000375630.2_Missense_Mutation_p.I535M|ATP11A_ENST00000375645.3_Missense_Mutation_p.I535M|ATP11A_ENST00000283558.8_Missense_Mutation_p.I535M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	535					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACATGGAGATATTAAACAGGG	0.433000													61	81					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136432917	136432917	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:136432917C>G	ENST00000264160.4	+	19	2433	c.2063C>G	c.(2062-2064)cCc>cGc	p.P688R	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P560R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P689R|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P559R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P633R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	688							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAAGTTATACCCAACCAGCAG	0.378000													13	58					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906999	164906999	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:164906999G>A	ENST00000475390.1	-	2	2063	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	SLITRK3_ENST00000241274.3_Silent_p.L540L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	540						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGGAAGATAGAGGAAGTAGT	0.512000										HNSCC(40;0.11)			22	31					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869408	31869408	+	Silent	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:31869408A>G	ENST00000334058.2	-	1	43	c.21T>C	c.(19-21)taT>taC	p.Y7Y		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	7						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCTCTGTAATAGCTGCCAT	0.552000													25	134					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31799678	31799678	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:31799678G>C	ENST00000446923.2	+	5	902	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	ZEB1_ENST00000560721.2_Missense_Mutation_p.E167Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E188Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.E120Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.E187Q|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	187					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E187K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCTCTGAAAGAACACATTAA	0.368000													17	63					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109810882	109810882	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:109810882G>A	ENST00000399132.1	-	17	1444	c.914C>T	c.(913-915)cCt>cTt	p.P305L	COL25A1_ENST00000399127.1_Missense_Mutation_p.P301L|COL25A1_ENST00000399126.1_Missense_Mutation_p.P305L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	305	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGATGATCCAGGGTCACCCTA	0.428000													11	45					0	0	1	0	0
C15orf37	283687	broad.mit.edu	37	15	80215233	80215233	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:80215233C>G	ENST00000560255.1	+	1	121	c.118C>G	c.(118-120)Ccc>Gcc	p.P40A	ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						ATCCAACCAACCCACCAACCC	0.567000													17	53					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32599532	32599532	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:32599532A>T	ENST00000341377.5	+	7	1156	c.639A>T	c.(637-639)caA>caT	p.Q213H	NRG1_ENST00000405005.3_Missense_Mutation_p.Q213H|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000521670.1_Missense_Mutation_p.Q213H|NRG1_ENST00000338921.4_Missense_Mutation_p.Q213H|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	213	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGGTGCCAACCTGGATTCA	0.403000													9	32					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100818075	100818075	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:100818075G>T	ENST00000300303.2	-	2	252	c.14C>A	c.(13-15)gCc>gAc	p.A5D	NAT16_ENST00000455377.1_Missense_Mutation_p.A5D|NAT16_ENST00000443096.1_Missense_Mutation_p.A5D	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	5							N-acetyltransferase activity										GCCACAGCTGGCTTCCAGCTT	0.567000													17	61					1.15919e-05	1.217e-05	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33374737	33374737	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:33374737A>G	ENST00000303296.4	+	17	3576	c.3271A>G	c.(3271-3273)Act>Gct	p.T1091A	HIPK3_ENST00000379016.3_Missense_Mutation_p.T1070A|HIPK3_ENST00000456517.1_Missense_Mutation_p.T1070A|HIPK3_ENST00000525975.1_Missense_Mutation_p.T1070A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1091					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TAATCCATTCACTCTTTCTCA	0.478000													12	46					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91522500	91522500	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:91522500T>C	ENST00000361188.5	-	8	2206	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.Q332R|PRC1_ENST00000361919.3_Missense_Mutation_p.Q332R|PRC1_ENST00000442656.2_Missense_Mutation_p.Q291R			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	332	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATCGTGGAGCTGGAGCAGACT	0.423000													49	67					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412834	126412834	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:126412834C>T	ENST00000394329.3	+	17	14870	c.14857C>T	c.(14857-14859)Ctt>Ttt	p.L4953F	FAT4_ENST00000335110.5_Missense_Mutation_p.L3194F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4953					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TTTGGCATCTCTTCCAGAAAA	0.458000													4	41					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14678824	14678824	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:14678824C>T	ENST00000284274.4	+	3	342	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	88										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAATGGATATCATGGACTACT	0.328000													12	13					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89449078	89449078	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:89449078G>A	ENST00000539437.1	-	6	707	c.571C>T	c.(571-573)Cct>Tct	p.P191S	MFGE8_ENST00000566497.1_Missense_Mutation_p.P199S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P199S|MFGE8_ENST00000542878.1_Missense_Mutation_p.P155S|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.P199S			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	199	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCCTCCACAGGGGTCTCAAAC	0.567000													30	103					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28207618	28207618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:28207618C>T	ENST00000344423.5	-	8	1420	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*	ZNF395_ENST00000523095.1_Nonsense_Mutation_p.W430*|ZNF395_ENST00000523202.1_Nonsense_Mutation_p.W430*	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	430					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCAGCAGCCCAGCTGACACT	0.647000													3	2					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100540147	100540147	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:100540147C>G	ENST00000457717.1	+	17	2490	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	MTTP_ENST00000265517.5_Missense_Mutation_p.S745C|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.S772C	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	745					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGTTACAATCTGGACTAAAA	0.373000													14	92					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15742725	15742725	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:15742725G>T	ENST00000381341.2	+	8	750	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	DDX1_ENST00000233084.3_Missense_Mutation_p.G121W			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	121	B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GGAATGGCATGGGTGTAGAGC	0.373000													16	48					4.7546e-09	5.17232e-09	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18043880	18043880	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:18043880G>A	ENST00000205890.5	+	20	5599	c.5261G>A	c.(5260-5262)cGc>cAc	p.R1754H	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1754	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCCTCAGCGCCTGGGCAAG	0.647000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	99					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68031187	68031187	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:68031187C>T	ENST00000304271.6	-	3	451	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	C11orf24_ENST00000530166.1_Intron|C11orf24_ENST00000533310.1_Missense_Mutation_p.E17K	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	17						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GCATGGCTTTCAGATAAGGAC	0.567000													10	27					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27394368	27394368	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:27394368A>G	ENST00000521400.1	+	13	1668	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G	EPHX2_ENST00000517536.1_Missense_Mutation_p.D230G|EPHX2_ENST00000380476.3_Missense_Mutation_p.D360G|EPHX2_ENST00000518379.1_Missense_Mutation_p.D381G|EPHX2_ENST00000521780.1_Missense_Mutation_p.D347G	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	413	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGAGCAAGCGATGAGGTGAGG	0.527000													3	19					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911415	79911415	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:79911415G>A	ENST00000438737.2	-	19	2995	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	RBM26_ENST00000438724.1_Missense_Mutation_p.S828L|RBM26_ENST00000267229.7_Missense_Mutation_p.S825L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	852					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCGACCAGATGAAAGAATCCC	0.527000													14	34					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47385368	47385368	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:47385368G>T	ENST00000232766.5	+	10	1682	c.1662G>T	c.(1660-1662)atG>atT	p.M554I	KLHL18_ENST00000455924.2_Missense_Mutation_p.M442I	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	554										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGACATTCATGGCCCCCATGG	0.602000													32	164					1.99505e-19	2.28238e-19	1	1	0
UBASH3A	53347	broad.mit.edu	37	21	43867218	43867218	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:43867218T>C	ENST00000319294.6	+	15	1931	c.1900T>C	c.(1900-1902)Tgg>Cgg	p.W634R	UBASH3A_ENST00000291535.6_Missense_Mutation_p.W596R|UBASH3A_ENST00000398367.1_Silent_p.N523N	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	634	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAAGGAAAATGGGAGTTGGT	0.483000													55	85					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78667181	78667181	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:78667181C>T	ENST00000436010.2	-	25	4766	c.3769G>A	c.(3769-3771)Gtg>Atg	p.V1257M	ROBO1_ENST00000467549.1_Missense_Mutation_p.V1196M|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1251M|ROBO1_ENST00000464233.1_Missense_Mutation_p.V1296M			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1296					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGAGGACTCACAGGCTGCCGT	0.473000													7	25					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622025	2622025	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:2622025A>G	ENST00000399655.1	+	9	1530	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q422R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q422R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	422					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAGATTTCCAGAAGCTGCGG	0.567000													12	14					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29608244	29608244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:29608244C>T	ENST00000318184.5	-	20	2374	c.2375G>A	c.(2374-2376)tGg>tAg	p.W792*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	792	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACCCGGCTTCCATGGCTGGAC	0.438000													25	25					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390086	107390086	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:107390086T>C	ENST00000429433.2	-	5	2958	c.2309A>G	c.(2308-2310)aAg>aGg	p.K770R	BEND3_ENST00000369042.1_Missense_Mutation_p.K770R	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	770	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTCCAGTTGCTTCTTGTTGCA	0.622000													12	62					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104380761	104380761	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:104380761A>T	ENST00000392872.3	+	10	1360	c.1126A>T	c.(1126-1128)Agt>Tgt	p.S376C	TDG_ENST00000542036.1_Missense_Mutation_p.S172C|TDG_ENST00000266775.9_Missense_Mutation_p.S372C|TDG_ENST00000544861.1_Missense_Mutation_p.S233C|TDG_ENST00000536395.1_3'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	376					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATCAGCTTTCAGTGGCATTCC	0.383000								Base excision repair (BER), DNA glycosylases					11	63					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118827600	118827600	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:118827600C>A	ENST00000264031.2	+	2	119	c.84C>A	c.(82-84)aaC>aaA	p.N28K	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	28					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CAGACTTCAACATCTCAAGCC	0.617000											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	51					3.1745e-13	3.5639e-13	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49620849	49620849	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:49620849C>T	ENST00000371571.4	-	3	1554	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	423						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCCACCGTCGTCATGGTGA	0.637000													37	63					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154789	22154789	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:22154789A>T	ENST00000397126.4	-	4	3195	c.3047T>A	c.(3046-3048)cTt>cAt	p.L1016H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGTTCCATAAGGTTTGATGA	0.398000													27	77					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056792	64056792	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:64056792G>A	ENST00000411458.1	+	9	1411	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	GPR137_ENST00000313074.3_Silent_p.P403P|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	403						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCCTCTGGCCGGCTCCTTGCT	0.667000													4	120					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10929920	10929920	+	Silent	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:10929920G>C	ENST00000404371.2	-	10	1288	c.951C>G	c.(949-951)gcC>gcG	p.A317A	PDIA6_ENST00000272227.3_Silent_p.A265A|PDIA6_ENST00000404824.2_Silent_p.A313A|PDIA6_ENST00000381611.4_Silent_p.A270A|PDIA6_ENST00000540494.1_Silent_p.A262A	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	265					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACAAATCAAGGGCCCGGGACA	0.468000													32	75					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304648	54304648	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:54304648C>T	ENST00000324134.6	-	7	2757	c.2589G>A	c.(2587-2589)ctG>ctA	p.L863L	NLRP12_ENST00000391773.1_Silent_p.L864L|NLRP12_ENST00000391775.3_Silent_p.L863L|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Silent_p.L864L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000535162.1_Silent_p.L863L|NLRP12_ENST00000391772.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	863					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCAGATCTTCAGCCTGCACA	0.483000													17	80					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611605	37611605	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:37611605C>T	ENST00000276461.5	+	12	1059	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ERLIN2_ENST00000519638.1_Missense_Mutation_p.P331L	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	331					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAGATGAACCCTTGGAGACG	0.418000													6	16					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39796902	39796902	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:39796902G>A	ENST00000564288.1	+	37	5419	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D1585N|MACF1_ENST00000372915.3_Missense_Mutation_p.D1553N|MACF1_ENST00000289893.4_5'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1553					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGGTGATTGACCTAGGCAC	0.398000													7	57					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12062101	12062101	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:12062101G>A	ENST00000235329.5	+	11	1423	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	MFN2_ENST00000444836.1_Silent_p.Q367Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	367					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGGCCAAGCAGATTGCAGAGG	0.602000													30	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	C	rs121912651		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:7577539G>C	ENST00000420246.2	-	7	874	c.742C>G	c.(742-744)Cgg>Ggg	p.R248G	TP53_ENST00000445888.2_Missense_Mutation_p.R248G|TP53_ENST00000269305.4_Missense_Mutation_p.R248G|TP53_ENST00000413465.2_Missense_Mutation_p.R248G|TP53_ENST00000455263.2_Missense_Mutation_p.R248G|TP53_ENST00000359597.4_Missense_Mutation_p.R248G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			17	34					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29618536	29618536	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:29618536G>A	ENST00000323874.8	+	15	2584	c.2474G>A	c.(2473-2475)cGg>cAg	p.R825Q	PTPRU_ENST00000373779.3_Missense_Mutation_p.R825Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R835Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R825Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R825Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R825Q|PTPRU_ENST00000415600.2_3'UTR			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	835	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACAGCACCCGGGGTGAGTGC	0.617000													8	35					0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41476311	41476311	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:41476311C>T	ENST00000396987.3	+	11	2089	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	388					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CGTGTGGTACCTGCCTCCCAT	0.562000													102	49					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3840802	3840802	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:3840802G>A	ENST00000309890.7	-	15	2379	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.I743I|ATP2A3_ENST00000359983.3_Silent_p.I743I|ATP2A3_ENST00000397043.3_Silent_p.I743I|ATP2A3_ENST00000352011.3_Silent_p.I743I|ATP2A3_ENST00000397035.3_Silent_p.I743I	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	743					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCGCAGCCACGATGGAGGCAA	0.602000													18	17					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945880	144945880	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:144945880G>A	ENST00000525985.1	-	2	1613	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L				P58107	EPIPL_HUMAN	epiplakin 1	514						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCAGAGAAGAGCAGCTCCC	0.647000													5	11					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230167	103230167	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:103230167C>A	ENST00000428762.1	-	28	4180	c.4021G>T	c.(4021-4023)Gct>Tct	p.A1341S	RELN_ENST00000343529.5_Missense_Mutation_p.A1341S|RELN_ENST00000424685.2_Missense_Mutation_p.A1341S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1341					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGCAGAAGCCGGGTAACAG	0.473000													16	91					2.31682e-05	2.40242e-05	1	1	0
NBAS	51594	broad.mit.edu	37	2	15676635	15676635	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:15676635C>T	ENST00000281513.5	-	8	579	c.554G>A	c.(553-555)gGg>gAg	p.G185E	NBAS_ENST00000441750.1_Missense_Mutation_p.G185E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	185										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAATATCAACCCAGCAATGGC	0.348000													37	101					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70252996	70252996	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:70252996A>G	ENST00000216540.4	-	2	518	c.385T>C	c.(385-387)Tgt>Cgt	p.C129R		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	129					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		CCAAGGGCACAGAAGGTGGAG	0.517000													17	24					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789932	26789932	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:26789932T>A	ENST00000376236.4	+	5	800	c.345T>A	c.(343-345)aaT>aaA	p.N115K	APBB1IP_ENST00000356785.4_Missense_Mutation_p.N115K	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	115					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATGGAACAAATGTTGCTGCCA	0.488000													94	72					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687582	18687582	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:18687582T>C	ENST00000406451.4	+	10	1351	c.1201T>C	c.(1201-1203)Ttg>Ctg	p.L401L	HDAC9_ENST00000524023.1_Silent_p.L324L|HDAC9_ENST00000405010.3_Silent_p.L401L|HDAC9_ENST00000417496.2_Silent_p.L399L|HDAC9_ENST00000406072.1_Silent_p.L388L|HDAC9_ENST00000456174.2_Silent_p.L373L|HDAC9_ENST00000441542.2_Silent_p.L404L|HDAC9_ENST00000432645.2_Silent_p.L401L|HDAC9_ENST00000428307.2_Silent_p.L357L|HDAC9_ENST00000401921.1_Silent_p.L360L	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCATTTATTATTGAAAGAACA	0.453000													5	14					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955562	113955562	+	Silent	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:113955562G>C	ENST00000482457.2	-	1	863	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGTAGCACAGGAGGTGCGACC	0.547000													8	60					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99447088	99447088	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:99447088C>T	ENST00000547776.2	-	17	2625		c.e17-1		ANKS1B_ENST00000332712.7_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000550693.2_Splice_Site|ANKS1B_ENST00000549493.2_Splice_Site|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000546568.1_Splice_Site|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000549558.2_Splice_Site|ANKS1B_ENST00000546960.1_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGTCTCATCTGTAATAAAG	0.398000													4	8					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966420	26966420	+	Missense_Mutation	SNP	C	C	T	rs145200675		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:26966420C>T	ENST00000528896.2	-	11	1216	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R238Q|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R238Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	381						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGGTGCCGGTAGTGAAT	0.468000													8	108					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41003464	41003464	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:41003464G>C	ENST00000352632.3	+	7	823	c.737G>C	c.(736-738)cGc>cCc	p.R246P	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R246P|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R246P|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R246P|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R246P			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	246	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGCCTTCCGCACAGCTGAG	0.642000													13	72					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539833	56539833	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:56539833C>T	ENST00000390649.3	+	7	2234	c.2234C>T	c.(2233-2235)cCa>cTa	p.P745L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	745						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGATCTTCCCAAGAGATGAG	0.517000													38	278					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42793924	42793924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:42793924C>T	ENST00000261491.5	+	28	3457	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	DGKH_ENST00000379274.2_Nonsense_Mutation_p.Q1010*|DGKH_ENST00000540693.1_Nonsense_Mutation_p.Q1146*|DGKH_ENST00000337343.4_Nonsense_Mutation_p.Q1146*|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Nonsense_Mutation_p.Q1010*|DGKH_ENST00000538674.1_Nonsense_Mutation_p.Q901*	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GACAAGTTCACAGCCTGGTAG	0.408000													5	36					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	52					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39908201	39908201	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:39908201G>T	ENST00000564288.1	+	77	19843	c.19066G>T	c.(19066-19068)Gac>Tac	p.D6356Y	MACF1_ENST00000361689.2_Missense_Mutation_p.D4297Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D4297Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D4297Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D4167Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D6393Y|MACF1_ENST00000372915.3_Missense_Mutation_p.D6255Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D4799Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6364					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATAAGTGGAGACCCAAAAGT	0.443000													12	200					1.08611e-07	1.16349e-07	1	1	0
ZNF878	729747	broad.mit.edu	37	19	12156017	12156017	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:12156017T>C	ENST00000602107.1	-	5	339	c.340A>G	c.(340-342)Ata>Gta	p.I114V	ZNF878_ENST00000547628.1_Missense_Mutation_p.I67V|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTCCCCTATAAGTCTTCTG	0.373000													4	11					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36272087	36272087	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:36272087G>A	ENST00000007510.4	+	12	1162	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E340K|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.E204K			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	340	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGAGTTCATTGAGGCCCACGG	0.652000													28	42					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614801	247614801	+	Missense_Mutation	SNP	C	C	A	rs147410436	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:247614801C>A	ENST00000318749.6	-	1	507	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCACCTGCACGAAGGAGTTG	0.602000													5	39					0.00116845	0.00118249	1	1	0
TOX	9760	broad.mit.edu	37	8	59764314	59764314	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:59764314C>T	ENST00000361421.1	-	4	682	c.462G>A	c.(460-462)caG>caA	p.Q154Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	154						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGCTGCCATCTGAGGATGGG	0.423000													47	31					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584636	30584636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:30584636G>A	ENST00000562532.2	+	3	1290	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCTTCTGCTGGTTCAACGTCA	0.592000													6	34					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207506	32207506	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:32207506C>T	ENST00000373658.3	-	9	1821	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	BAI2_ENST00000398556.3_Missense_Mutation_p.G442S|BAI2_ENST00000398538.1_Missense_Mutation_p.G482S|BAI2_ENST00000398547.1_Missense_Mutation_p.G427S|BAI2_ENST00000398542.1_Missense_Mutation_p.G427S|BAI2_ENST00000373655.2_Missense_Mutation_p.G494S|BAI2_ENST00000440175.2_Missense_Mutation_p.G136S|BAI2_ENST00000257070.4_Missense_Mutation_p.G494S|BAI2_ENST00000527361.1_Missense_Mutation_p.G494S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	494	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGCTGCCAGCCTGTGTCACAC	0.632000													12	63					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918475	16918475	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:16918475C>T	ENST00000524140.2	+	18	4233	c.3815C>T	c.(3814-3816)aCg>aTg	p.T1272M	NWD1_ENST00000379808.3_Missense_Mutation_p.T1272M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1272M|NWD1_ENST00000339803.6_Missense_Mutation_p.T1137M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1230M|NWD1_ENST00000523826.1_Missense_Mutation_p.T1066M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1272							ATP binding	p.T1272M(1)|p.T1137M(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTATTTACGGGCCTCGTG	0.567000													15	40					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928311	40928311	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:40928311C>G	ENST00000411995.2	+	6	1030	c.655C>G	c.(655-657)Cag>Gag	p.Q219E	ZFP69B_ENST00000361584.3_Missense_Mutation_p.Q117E|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AACATTCACTCAGGAGAGAGG	0.403000													62	104					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192153583	192153583	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:192153583G>T	ENST00000367460.3	+	5	788	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	203					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACTTGATGGAAGGAAGACC	0.403000													11	54					1.58986e-06	1.68598e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:7574018G>T	ENST00000269305.4	-	10	1198	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	TP53_ENST00000445888.2_Missense_Mutation_p.R337S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; 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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522000		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)			7	23					0.000157383	0.000162001	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697333	17697333	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:17697333C>G	ENST00000399080.2	-	1	2373	c.2350G>C	c.(2350-2352)Gaa>Caa	p.E784Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	784										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGATCTTCAAATATGTGC	0.338000													28	46					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50713925	50713925	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:50713925G>A	ENST00000361387.2	-	7	1023	c.963C>T	c.(961-963)ctC>ctT	p.L321L	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Silent_p.L321L|ZFP64_ENST00000371523.4_Silent_p.L102L	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTGGATTCTGAGATGGCGGT	0.403000													68	293					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47103857	47103857	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:47103857T>C	ENST00000290341.3	+	4	649	c.315T>C	c.(313-315)ggT>ggC	p.G105G	IGF2BP1_ENST00000431824.2_Silent_p.G105G|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	105	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCAGTATGGTACAGTAGAGA	0.537000													16	26					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305971	39305971	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:39305971G>T	ENST00000343246.4	-	1	83	c.49C>A	c.(49-51)Ctg>Atg	p.L17M		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	17	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGTTCTCCAGGCCACAGCTC	0.612000													14	47					4.93089e-13	5.52102e-13	1	1	0
FAF1	11124	broad.mit.edu	37	1	51005322	51005322	+	Silent	SNP	C	C	A	rs147731167	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:51005322C>A	ENST00000396153.2	-	14	1798	c.1347G>T	c.(1345-1347)ccG>ccT	p.P449P	FAF1_ENST00000371778.4_Silent_p.P449P|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Silent_p.P207P	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	449					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCAGGAAAAGCGGAAACTGAT	0.388000													17	44					4.7546e-09	5.17232e-09	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131149094	131149094	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:131149094C>A	ENST00000352689.6	+	14	1755	c.1715C>A	c.(1714-1716)cCa>cAa	p.P572Q	MKLN1_ENST00000421797.2_Missense_Mutation_p.P480Q|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	572					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGGATAATCCAACTAAAAGT	0.388000													7	60					5.4927e-09	5.94455e-09	1	1	0
RP11-556N21.1	0	broad.mit.edu	37	13	25144750	25144750	+	RNA	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:25144750G>A	ENST00000453498.1	+	0	291																											CTCCAATGACGGGTATGAATA	0.463000													11	17					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49189932	49189932	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:49189932G>A	ENST00000406846.2	-	10	2147	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	FSHR_ENST00000541117.1_Silent_p.P412P|FSHR_ENST00000304421.4_Silent_p.P650P|FSHR_ENST00000346173.3_Silent_p.P614P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	676					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.P676P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGTGACTCTGGGAGCTGAAG	0.418000									Gonadal Dysgenesis, 46 XX				17	74					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097491	75097491	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:75097491C>T	ENST00000326665.5	-	7	943	c.725G>A	c.(724-726)gGg>gAg	p.G242E	C1orf173_ENST00000420661.2_Missense_Mutation_p.G45E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	242								p.G242A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTGATTTTCCCAGTTGGGGG	0.403000													12	66					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958858	26958858	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:26958858G>A	ENST00000528896.2	-	22	4150	c.4076C>T	c.(4075-4077)aCt>aTt	p.T1359I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.T1216I|KIAA0100_ENST00000389003.3_Missense_Mutation_p.T1216I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1359						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAGCCGCTGAGTCCCCCGAGT	0.493000													13	231					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703800	4703800	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:4703800C>T	ENST00000396950.3	-	2	381	c.142G>A	c.(142-144)Gta>Ata	p.V48I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCCGTCCTTACGATGAAGACC	0.512000													20	24					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471493	128471493	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:128471493C>A	ENST00000322313.4	-	18	3130	c.2972G>T	c.(2971-2973)cGg>cTg	p.R991L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	991					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R991L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGGCCACCCCGGAAAGGCCC	0.667000													30	93					6.38683e-12	7.13224e-12	1	1	0
C7orf26	79034	broad.mit.edu	37	7	6639680	6639680	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:6639680C>T	ENST00000344417.5	+	4	1068	c.801C>T	c.(799-801)gtC>gtT	p.V267V	C7orf26_ENST00000359073.5_Intron|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	267										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ATGGCCATGTCAGCAACAAGG	0.552000													44	51					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966709	87966709	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:87966709C>T	ENST00000369577.3	+	8	3405	c.3362C>T	c.(3361-3363)aCa>aTa	p.T1121I	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1116I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACATGAAGACAGCACACCCT	0.403000													15	15					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61188952	61188952	+	Silent	SNP	G	G	A	rs139445466	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:61188952G>A	ENST00000340437.4	-	3	392	c.312C>T	c.(310-312)ccC>ccT	p.P104P	CPSF7_ENST00000448745.1_Silent_p.P61P|CPSF7_ENST00000394888.4_Silent_p.P61P|CPSF7_ENST00000541963.1_Silent_p.P61P|CPSF7_ENST00000439958.3_Silent_p.P61P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	61	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TGTTGGGCTTGGGAGATGGCT	0.547000													24	28					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396465	136396465	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:136396465G>A	ENST00000264160.4	+	14	1362		c.e14-1		R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000443537.2_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTAAATTACAGAGTTAATAAA	0.363000													19	78					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40161750	40161750	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:40161750C>T	ENST00000373233.3	-	3	670	c.493G>A	c.(493-495)Gag>Aag	p.E165K	CHD6_ENST00000309279.7_Missense_Mutation_p.E165K|CHD6_ENST00000373222.3_Missense_Mutation_p.E200K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	165	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTTGGCCTCCTTGGTGCCC	0.587000													23	91					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108619	8108619	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:8108619A>G	ENST00000316199.6	-	8	856	c.779T>C	c.(778-780)aTt>aCt	p.I260T	AURKB_ENST00000534871.1_Missense_Mutation_p.I218T|AURKB_ENST00000578549.1_Missense_Mutation_p.I227T|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000585124.1_Missense_Mutation_p.I259T	NM_001284526.1	NP_001271455.1	Q96GD4	AURKB_HUMAN	aurora kinase B	259	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						AAGCACTCCAATGCACCACAG	0.577000													12	38					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145663880	145663880	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:145663880G>T	ENST00000409379.3	-	13	1656	c.1627C>A	c.(1627-1629)Cgc>Agc	p.R543S	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	543					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGGACGCGGCGCAGCTGGCCC	0.677000													10	29					2.17888e-05	2.26496e-05	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198281538	198281538	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:198281538C>T	ENST00000335508.6	-	6	684	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCCCAACGCCGTTTTCGTTT	0.443000			Mis		myelodysplastic syndrome								50	191					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732159	144732159	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:144732159G>A	ENST00000458270.2	+	0	346				ZNF623_ENST00000526926.1_De_novo_Start_InFrame|ZNF623_ENST00000501748.2_Silent_p.T39T	NM_001082480.2	NP_001075949	O75123	ZN623_HUMAN	zinc finger protein 623						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T39T(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522000													8	36					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13395701	13395701	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:13395701A>C	ENST00000389708.3	+	14	1482	c.1127A>C	c.(1126-1128)tAt>tCt	p.Y376S	ARNTL_ENST00000403510.3_Missense_Mutation_p.Y332S|ARNTL_ENST00000401424.1_Missense_Mutation_p.Y333S|ARNTL_ENST00000389707.4_Missense_Mutation_p.Y375S|ARNTL_ENST00000403482.3_Missense_Mutation_p.Y374S|ARNTL_ENST00000403290.1_Missense_Mutation_p.Y376S|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000396441.3_Missense_Mutation_p.Y375S			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	376	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGTTATGAATATTTTCACCAA	0.368000													21	39					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358811	21358811	+	Silent	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:21358811A>G	ENST00000256958.2	+	11	1437	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	447					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GAAATAATCCAGTGACATCTC	0.363000													14	39					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532714	92532714	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:92532714G>A	ENST00000298047.6	+	9	6552	c.6535G>A	c.(6535-6537)Gtc>Atc	p.V2179I	FAT3_ENST00000525166.1_Missense_Mutation_p.V2029I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2179I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2179	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCACTATTGTCAACAAAGC	0.443000										TCGA Ovarian(4;0.039)			3	23					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80019839	80019839	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:80019839G>A	ENST00000354321.7	-	5	1016	c.531C>T	c.(529-531)cgC>cgT	p.R177R	DUS1L_ENST00000306796.5_Silent_p.R177R			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	177					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCTCCTTGGTGCGTCCGTGCA	0.672000													11	93					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106458	90106458	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:90106458T>C	ENST00000405460.2	+	74	15477	c.15381T>C	c.(15379-15381)aaT>aaC	p.N5127N	GPR98_ENST00000425867.2_Silent_p.N788N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5127					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTGGATAATGATGACCTGG	0.413000													61	42					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35544090	35544090	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:35544090A>T	ENST00000287272.2	+	6	799	c.779A>T	c.(778-780)gAa>gTa	p.E260V	UNC5D_ENST00000416672.1_Missense_Mutation_p.E316V|UNC5D_ENST00000404895.2_Missense_Mutation_p.E316V|UNC5D_ENST00000453357.2_Missense_Mutation_p.E311V|UNC5D_ENST00000420357.1_Missense_Mutation_p.E260V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	316	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGTGGAGCGAATGGTCCGTC	0.527000													26	52					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688290	55688290	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:55688290T>C	ENST00000358433.2	-	1	726	c.727A>G	c.(727-729)Atg>Gtg	p.M243V		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAACAATCATGTGGGAAGTA	0.378000													34	34					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117142937	117142937	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:117142937C>G	ENST00000369486.3	-	7	2420	c.1655G>C	c.(1654-1656)cGg>cCg	p.R552P	IGSF3_ENST00000369483.1_Missense_Mutation_p.R572P|IGSF3_ENST00000318837.6_Missense_Mutation_p.R572P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	552	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCCCGGTGTCCGGGAGATGGC	0.562000													11	13					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43460230	43460230	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:43460230G>A	ENST00000331018.7	-	6	844	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	TTLL1_ENST00000266254.7_Silent_p.L202L			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	202	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTGGACACCAGAACGTACAAG	0.458000													11	45					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66621341	66621341	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:66621341T>C	ENST00000319194.5	+	13	2247	c.1986T>C	c.(1984-1986)aaT>aaC	p.N662N	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.N745N	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	745					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCTGGATAATGCGAACGACC	0.507000													63	79					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166915146	166915146	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:166915146G>T	ENST00000423058.2	-	2	334	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	SCN1A_ENST00000375405.3_Missense_Mutation_p.S106Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.S106Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.S106Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	106						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S106F(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTACAGGGCAGAGGTGGCACT	0.338000													8	33					0.000157383	0.000162001	1	1	0
MED1	5469	broad.mit.edu	37	17	37607294	37607294	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:37607294C>T	ENST00000300651.6	-	1	245	c.22G>A	c.(22-24)Gag>Aag	p.E8K	MED1_ENST00000394287.3_Missense_Mutation_p.E8K	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	8	Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACTTACCCTCGGTTTCCCCC	0.562000										HNSCC(31;0.082)			37	302					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124525536	124525536	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:124525536C>T	ENST00000517956.1	-	6	744	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	185										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACAGACTTGCCGACTCTTTGG	0.483000													22	33					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851080	155851080	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:155851080C>T	ENST00000368324.4	+	4	1330	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SYT11_ENST00000539162.1_Silent_p.F52F	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	359	C2 2.			F -> L (in Ref. 4; CAH18653).		cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ACCCCATCTTCAATGAATCTT	0.493000													208	226					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15950388	15950388	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:15950388C>T	ENST00000268712.3	-	42	6813	c.6556G>A	c.(6556-6558)Ggg>Agg	p.G2186R	NCOR1_ENST00000395851.1_Missense_Mutation_p.G2083R|NCOR1_ENST00000395857.3_Missense_Mutation_p.G770R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2186	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTATACTCCCTGGTGAGCGG	0.418000													28	83					0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35465981	35465981	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:35465981T>A	ENST00000546080.1	+	2	417	c.11T>A	c.(10-12)tTa>tAa	p.L4*	SRP54_ENST00000555557.1_5'UTR|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000216774.6_Silent_p.I22I|SRP54_ENST00000556994.1_Silent_p.I22I	NM_001146282.1	NP_001139754.1	P61011	SRP54_HUMAN	signal recognition particle 54kDa	0	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATGCCACCATTATCAATGAAG	0.338000													17	56					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007310	124007310	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:124007310C>T	ENST00000456829.2	+	14	1805	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	VWA5A_ENST00000392748.1_Silent_p.L518L|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	518										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AAGTATGCCTCAAATATACAC	0.428000													45	64					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100451106	100451106	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:100451106G>A	ENST00000514652.1	+	5	891	c.537G>A	c.(535-537)caG>caA	p.Q179Q	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Silent_p.Q179Q			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	179										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATCTGGATCAGGAAATAAAAG	0.358000													8	40					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36365139	36365139	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:36365139C>T	ENST00000312412.4	-	4	455	c.456G>A	c.(454-456)ctG>ctA	p.L152L	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						TTTTGTCATTCAGCTCTCCAA	0.358000													14	168					0	0	1	0	0
COTL1	23406	broad.mit.edu	37	16	84623790	84623790	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:84623790G>A	ENST00000262428.4	-	3	401	c.239C>T	c.(238-240)aCg>aTg	p.T80M	COTL1_ENST00000564057.1_Missense_Mutation_p.T11M	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	80	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACCGATCCACGTGATGAGGGC	0.582000													18	78					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821286	183821286	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:183821286C>A	ENST00000361354.4	-	20	2429	c.2057G>T	c.(2056-2058)tGc>tTc	p.C686F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.C692F	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATAGAGAAGCATAACTCAGA	0.328000													22	71					6.44725e-10	7.12413e-10	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411429	105411429	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:105411429C>T	ENST00000333244.5	-	7	10478	c.10359G>A	c.(10357-10359)gcG>gcA	p.A3453A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3453						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)			CCTCCAGCCGCGCACCATCCA	0.597000													91	165					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089841	12089841	+	Silent	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:12089841C>G	ENST00000235332.4	+	7	904	c.735C>G	c.(733-735)gtC>gtG	p.V245V	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.V245V	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	245	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTTACCGTGTCAACCGGCGCC	0.701000													21	21					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34165461	34165461	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:34165461C>G	ENST00000588240.1	+	11	932	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V	TAF15_ENST00000311979.3_Missense_Mutation_p.L270V|TAF15_ENST00000592237.1_Missense_Mutation_p.L182V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	273	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATAAATCTTTATACAGA	0.378000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								86	193					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202768	22202768	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:22202768G>A	ENST00000374695.3	-	23	3036	c.2957C>T	c.(2956-2958)tCt>tTt	p.S986F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	986	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGGGTCCAGATAAGAGTCT	0.602000													6	18					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969198	37969198	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:37969198A>G	ENST00000327441.7	+	13	1583	c.1117A>G	c.(1117-1119)Aga>Gga	p.R373G	MIPOL1_ENST00000545536.1_Missense_Mutation_p.R342G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R342G|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R192G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R373G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R342G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R373G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	373										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTTAAAAAACAGAGAGAACAT	0.338000													12	27					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100275608	100275608	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:100275608G>A	ENST00000403410.1	+	5	863	c.243G>A	c.(241-243)atG>atA	p.M81I	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.M65I			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	65						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TGGCAGGCATGGCTGGGGAGC	0.433000													3	30					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590225	140590225	+	Silent	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:140590225G>T	ENST00000239450.2	+	1	1935	c.1746G>T	c.(1744-1746)ccG>ccT	p.P582P	PCDHB12_ENST00000541609.1_Silent_p.P245P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCGAGCCGGGCTACCTGG	0.692000													31	124					1.88708e-17	2.14141e-17	1	1	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776021	27776021	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:27776021C>T	ENST00000358739.3	+	1	123	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						AGGCAAAGCTCGCGCCAAGGC	0.552000													20	163					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33479988	33479988	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:33479988A>G	ENST00000268876.5	+	5	555	c.458A>G	c.(457-459)gAt>gGt	p.D153G	UNC45B_ENST00000394570.2_Missense_Mutation_p.D153G|UNC45B_ENST00000433649.1_Missense_Mutation_p.D153G|UNC45B_ENST00000591048.1_Missense_Mutation_p.D153G|UNC45B_ENST00000378449.1_Missense_Mutation_p.D153G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	153					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTGAGGCTGATAAGCGGGAA	0.577000													13	114					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156784757	156784757	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:156784757G>A	ENST00000537611.2	-	2	236	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	64						integral to membrane|plasma membrane											ACCAACCAGAGCACCCTGCGA	0.483000													16	75					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33164069	33164069	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:33164069G>C	ENST00000413614.2	-	4	1066	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	RXRB_ENST00000374685.4_Intron|RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374680.3_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	0	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGTTTGAAAGACCTTGTTTG	0.498000													7	17					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926558	22926558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:22926558G>A	ENST00000261374.3	+	2	1213	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	260						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTGGAGAGCTGGCTGCAGTAC	0.632000													30	107					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105902147	105902147	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:105902147C>G	ENST00000222553.3	-	8	1283	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	NAMPT_ENST00000354289.4_Missense_Mutation_p.E326Q	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	326					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTAAAATCTCCAAAACCTAT	0.328000													45	65					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200824006	200824006	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:200824006G>C	ENST00000358823.2	+	14	4155	c.3885G>C	c.(3883-3885)aaG>aaC	p.K1295N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K1279N|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K1306N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1306						cytoplasm|microtubule	protein binding										ATTCAGGCAAGAGGACGCCAA	0.343000													6	51					0	0	1	0	0
ASCC1	51008	broad.mit.edu	37	10	73921375	73921375	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:73921375C>T	ENST00000342444.4	-	7	732	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	ASCC1_ENST00000317126.4_Missense_Mutation_p.G183R|ASCC1_ENST00000394919.1_Missense_Mutation_p.G183R|ASCC1_ENST00000317168.6_Missense_Mutation_p.G183R|ASCC1_ENST00000545550.1_Missense_Mutation_p.G205R|ASCC1_ENST00000394915.3_Missense_Mutation_p.G211R	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ACCAACATCCCAATAGTTAGA	0.408000													13	73					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	48					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89785447	89785447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:89785447C>A	ENST00000389386.3	-	2	287	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	VPS9D1_ENST00000561976.1_5'UTR	NM_004913.2	NP_004904.2			VPS9 domain containing 1																		TTAGTGGTTTCCACTTCTTCT	0.572000													15	91					3.52763e-06	3.72214e-06	1	1	0
MICU1	10367	broad.mit.edu	37	10	74234918	74234918	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:74234918C>T	ENST00000398761.4	-	10	1011	c.879G>A	c.(877-879)ctG>ctA	p.L293L	MICU1_ENST00000418483.2_Silent_p.L93L|MICU1_ENST00000401998.3_Silent_p.L291L|MICU1_ENST00000361114.5_Silent_p.L291L|MICU1_ENST00000398763.4_Silent_p.L93L			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	291					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TTTTGATTGTCAGCTTTCCCT	0.468000													3	8					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571224	167571224	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:167571224G>A	ENST00000366834.1	-	1	593	c.96C>T	c.(94-96)aaC>aaT	p.N32N		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	32						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GCGCCACCGCGTTGCCCAGCA	0.647000													9	19					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228564910	228564910	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:228564910G>A	ENST00000570156.2	+	112	26142	c.26068G>A	c.(26068-26070)Gca>Aca	p.A8690T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A5367T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A7733T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7733					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGCTGCACGCAGCCTACCT	0.682000													9	4					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32146624	32146624	+	Splice_Site	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:32146624T>C	ENST00000373672.3	-	38	3099	c.2583A>G	c.(2581-2583)ccA>ccG	p.P861P	COL16A1_ENST00000373668.3_Splice_Site_p.P861P|COL16A1_ENST00000271069.6_Splice_Site_p.P860P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	861	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTACTCACTGGTGTTCCTC	0.612000													10	45					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152056242	152056242	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:152056242A>T	ENST00000409598.4	-	15	2797	c.1630T>A	c.(1630-1632)Tca>Aca	p.S544T	SH3D19_ENST00000455740.1_Missense_Mutation_p.S544T|SH3D19_ENST00000304527.4_Missense_Mutation_p.S567T|SH3D19_ENST00000427414.2_Missense_Mutation_p.S508T|SH3D19_ENST00000424281.1_Missense_Mutation_p.S508T|SH3D19_ENST00000514152.1_Missense_Mutation_p.S544T|SH3D19_ENST00000409252.2_Missense_Mutation_p.S567T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	567	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CAATGAGATGAAACACATTCT	0.284000													45	64					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969310	54969310	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:54969310A>C	ENST00000326764.5	+	14	2410	c.1931A>C	c.(1930-1932)cAg>cCg	p.Q644P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	607							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AACCAGTGCCAGACGCAGCTC	0.572000													17	64					0	0	1	0	0
ANKRD20A19P	400110	broad.mit.edu	37	13	24515533	24515533	+	RNA	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:24515533C>T	ENST00000442969.1	-	0	1223																											CTGTAGACATCCTTAAGGTTT	0.458000													52	95					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663299	71663299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:71663299C>T	ENST00000565261.1	+	2	380	c.334C>T	c.(334-336)Cga>Tga	p.R112*	MARVELD3_ENST00000567566.1_Missense_Mutation_p.S166L|MARVELD3_ENST00000299952.4_Missense_Mutation_p.S166L|MARVELD3_ENST00000268485.3_Missense_Mutation_p.S166L|MARVELD3_ENST00000567501.1_5'UTR			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	37	Arg-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TATCTGCCCTCGACCCCCAGG	0.498000													12	63					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590224	140590224	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:140590224C>T	ENST00000239450.2	+	1	1934	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P245L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.692000													30	120					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11534675	11534675	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:11534675T>C	ENST00000356392.4	-	8	1074	c.987A>G	c.(985-987)ctA>ctG	p.L329L	CCDC151_ENST00000545100.1_Silent_p.L275L|CCDC151_ENST00000591179.1_Silent_p.L269L|CCDC151_ENST00000586836.1_Silent_p.L138L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	329										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGTCGGACTGTAGCAGCAGGT	0.637000													40	83					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15761231	15761231	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:15761231A>G	ENST00000381341.2	+	19	1827	c.1438A>G	c.(1438-1440)Aat>Gat	p.N480D	DDX1_ENST00000233084.3_Missense_Mutation_p.N480D			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	480	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ACCTGGTGCTAATAGTCCAGG	0.343000													22	53					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321413	179321413	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:179321413A>G	ENST00000356834.3	-	4	587	c.550T>C	c.(550-552)Ttc>Ctc	p.F184L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.F184L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	184	GRAM 1.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGAGTAGAAGCACAGGTGG	0.657000													3	10					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295195	120295195	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:120295195T>C	ENST00000369406.3	-	8	1446	c.1397A>G	c.(1396-1398)cAa>cGa	p.Q466R	HMGCS2_ENST00000544913.2_Missense_Mutation_p.Q424R	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	466					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTGCTCTCTTTGGTTCATTAT	0.478000													13	154					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791206	8791206	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:8791206C>A	ENST00000405863.1	+	3	1534	c.623C>A	c.(622-624)aCa>aAa	p.T208K	NXPH1_ENST00000602349.1_Missense_Mutation_p.T91K|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	208	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACCAAGAACACACTCTGCAAC	0.418000													10	16					0.0581538	0.0582922	1	1	0
TRMT11	60487	broad.mit.edu	37	6	126319271	126319271	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:126319271G>A	ENST00000334379.5	+	4	406	c.285G>A	c.(283-285)gtG>gtA	p.V95V	TRMT11_ENST00000368332.3_Silent_p.V95V|TRMT11_ENST00000450358.1_Silent_p.V95V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	95					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACTACCCTGTGGAGAAGATGG	0.358000													30	26					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009127	120009127	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:120009127C>T	ENST00000371311.3	-	1	652	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	133										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ATAGAGGCGGCGGAGAAGGGA	0.652000													9	15					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372459	43372459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:43372459G>T	ENST00000244296.2	-	5	1174	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	PSG1_ENST00000403380.3_Nonsense_Mutation_p.S253*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.S346*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.S346*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.S346*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.S253*	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GACTTCTCCTGAACGGTAATA	0.473000													20	137					1.42536e-11	1.5875e-11	1	1	0
PARP16	54956	broad.mit.edu	37	15	65555626	65555626	+	Silent	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:65555626G>T	ENST00000261888.6	-	4	997	c.552C>A	c.(550-552)acC>acA	p.T184T	PARP16_ENST00000444347.2_Silent_p.T69T	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	184	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TCAAGTCACTGGTGAGGTAGG	0.567000													7	22					0.0381472	0.038421	1	1	0
MS4A10	341116	broad.mit.edu	37	11	60557967	60557967	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:60557967G>C	ENST00000308287.1	+	2	255	c.159G>C	c.(157-159)aaG>aaC	p.K53N		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	53						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCCAGAAGAAGAGCAGCCTTC	0.627000													10	44					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													6	862					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52621524	52621524	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:52621524C>T	ENST00000356770.4	-	18	2874	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K	PBRM1_ENST00000296302.7_Missense_Mutation_p.E990K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1005K|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1005K|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.E990K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E990K			Q86U86	PB1_HUMAN	polybromo 1	990	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			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)		AACCATTTTTCACCTCAAAAA	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								9	44					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130551655	130551655	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr9:130551655G>A	ENST00000373265.2	+	7	1303	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	CDK9_ENST00000373264.4_Missense_Mutation_p.D318N			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	318					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CTTCTGGTCCGACCCCATGCC	0.627000													39	16					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39393418	39393418	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:39393418T>C	ENST00000545653.1	-	3	699	c.169A>G	c.(169-171)Att>Gtt	p.I57V	DAB2_ENST00000320816.6_Missense_Mutation_p.I57V|DAB2_ENST00000339788.6_Missense_Mutation_p.I57V|DAB2_ENST00000509337.1_Missense_Mutation_p.I57V	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	57	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACATCATCAATGCCAATCAGC	0.388000													27	46					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800597	84800597	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:84800597A>T	ENST00000389394.3	+	12	1947	c.1810A>T	c.(1810-1812)Att>Ttt	p.I604F	DNAH6_ENST00000237449.6_Missense_Mutation_p.I604F|DNAH6_ENST00000398278.2_Missense_Mutation_p.I604F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	604	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTAGGAAACCATTCAGGCCGC	0.333000													28	82					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089271	137089271	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:137089271G>C	ENST00000314940.4	-	1	768	c.485C>G	c.(484-486)cCg>cGg	p.P162R		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	162	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCTGAATCGGATGGAACTT	0.607000													18	22					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59737967	59737967	+	Silent	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:59737967C>A	ENST00000468189.1	-	9	799	c.429G>T	c.(427-429)cgG>cgT	p.R143R	FHIT_ENST00000492590.1_Silent_p.R143R|FHIT_ENST00000341848.4_Silent_p.R143R|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Silent_p.R143R			P49789	FHIT_HUMAN	fragile histidine triad	143					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GAAAGTAGACCCGCAGAGCTG	0.517000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				8	83					0.000442599	0.000452268	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41585313	41585313	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:41585313G>A	ENST00000402685.2	+	2	710	c.702G>A	c.(700-702)ttG>ttA	p.L234L		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	234	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGACACTTTGGGATTCAATA	0.308000													10	27					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50437746	50437746	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:50437746C>T	ENST00000389983.2	-	9	839	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	IL17REL_ENST00000341280.5_Missense_Mutation_p.R192Q	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	192								p.R192Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GATCTGGATCCGCACCGCGTC	0.667000													26	48					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751686	247751686	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:247751686G>A	ENST00000320065.1	+	1	25	c.25G>A	c.(25-27)Gag>Aag	p.E9K	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACCAATGAGAGCAACCT	0.388000													12	69					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766114	110766114	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:110766114G>A	ENST00000369787.3	+	2	1234	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	KCNC4_ENST00000413138.3_Missense_Mutation_p.E403K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E403K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	403					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTACTACGCTGAGCGCATTGG	0.592000													21	135					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55923968	55923968	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:55923968G>T	ENST00000244728.5	-	29	3078	c.2681C>A	c.(2680-2682)cCc>cAc	p.P894H	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.P891H|COL21A1_ENST00000535941.1_Missense_Mutation_p.P894H|COL21A1_ENST00000370808.2_Missense_Mutation_p.P260H	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	894					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCACCTGGGGGACCAGGAGG	0.443000													3	28					0.115264	0.115264	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73718243	73718243	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:73718243C>T	ENST00000264448.6	+	10	9265	c.9154C>T	c.(9154-9156)Ccc>Tcc	p.P3052S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3010S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3052					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACTCTTTGTCCCAAGACTTC	0.403000													11	124					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867484	107867484	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:107867484T>C	ENST00000370067.1	+	3	1454	c.827T>C	c.(826-828)gTa>gCa	p.V276A	NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Missense_Mutation_p.V276A|NTNG1_ENST00000370065.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370072.3_Missense_Mutation_p.V276A|NTNG1_ENST00000370061.3_Missense_Mutation_p.V276A|NTNG1_ENST00000370074.4_Missense_Mutation_p.V276A|NTNG1_ENST00000370070.2_Missense_Mutation_p.V276A|NTNG1_ENST00000370071.2_Missense_Mutation_p.V276A|NTNG1_ENST00000542803.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370068.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370066.1_Missense_Mutation_p.V276A			Q9Y2I2	NTNG1_HUMAN	netrin G1	276	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAAATATTTGTAGATGAGCTA	0.463000													45	75					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68982089	68982089	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:68982089G>A	ENST00000288368.4	+	13	1740	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	488					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTATATTGTCGTCTTCATAGC	0.294000													37	41					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266594	113266594	+	Missense_Mutation	SNP	G	G	A	rs41283082	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:113266594G>A	ENST00000369630.3	+	4	510	c.293G>A	c.(292-294)cGt>cAt	p.R98H	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTGTGCTCGTAGAGACCCT	0.612000													10	69					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942123	121942123	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:121942123C>T	ENST00000442488.2	-	4	1423	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	FEZF1_ENST00000427185.2_Silent_p.T402T|FEZF1_ENST00000331178.4_Silent_p.T448T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	452	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						gaggaggcagcgtcatcggcg	0.731000													11	35					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38058144	38058144	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:38058144C>A	ENST00000463876.1	-	3	682	c.329G>T	c.(328-330)cGt>cTt	p.R110L	PLCD1_ENST00000334661.4_Missense_Mutation_p.R89L|PLCD1_ENST00000479619.1_5'UTR	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	89	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGGCACATCACGGGCGAACTT	0.612000													9	9					5.4927e-09	5.94455e-09	1	1	0
SCAMP5	192683	broad.mit.edu	37	15	75305132	75305132	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:75305132A>G	ENST00000361900.6	+	4	329	c.122A>G	c.(121-123)tAc>tGc	p.Y41C	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Silent_p.L22L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.Y41C|SCAMP5_ENST00000425597.3_Missense_Mutation_p.Y41C	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	41					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AAGCGCCTCTACTACCTCTGG	0.602000													23	25					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153075325	153075325	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:153075325G>A	ENST00000367244.3	+	3	304	c.132G>A	c.(130-132)gaG>gaA	p.E44E	VIP_ENST00000367243.3_Silent_p.E44E	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	44					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TACCCTTTGAGGGAGCAAATG	0.378000													12	42					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52231649	52231649	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:52231649A>T	ENST00000371710.3	+	12	1170	c.988A>T	c.(988-990)Ata>Tta	p.I330L	OSBPL9_ENST00000361556.5_Missense_Mutation_p.I202L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I147L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I134L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I134L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I317L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I147L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I231L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I322L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I299L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I295L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I312L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	312					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAAGCGCTTAATAGAGTGAGT	0.358000													35	39					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	949204	949204	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:949204G>A	ENST00000264771.4	+	9	824	c.639G>A	c.(637-639)ctG>ctA	p.L213L	TMEM175_ENST00000508204.1_Silent_p.L131L|TMEM175_ENST00000515740.1_Silent_p.L97L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	213						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTACCTGCTGATGGTGACTG	0.617000													11	17					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28187233	28187233	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:28187233T>C	ENST00000304658.5	-	4	891	c.391A>G	c.(391-393)Act>Gct	p.T131A	XPO6_ENST00000565698.1_Missense_Mutation_p.T117A	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	131					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAAATGTTAGTAAAAAAGTCG	0.363000													20	24					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832462	42832462	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:42832462G>T	ENST00000314073.5	+	13	2694	c.2518G>T	c.(2518-2520)Ggc>Tgc	p.G840C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G840C					GLTSCR1-like																		GACACAGTTTGGCCGGAGTGA	0.502000													38	52					5.43694e-19	6.20312e-19	1	1	0
TRBV5-6	28609	broad.mit.edu	37	7	142131869	142131869	+	RNA	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:142131869G>T	ENST00000390375.2	-	0	49																											AGAGGAGCCCGGGGCCCATGG	0.602000													16	75					4.7546e-09	5.17232e-09	1	1	0
NMU	10874	broad.mit.edu	37	4	56496571	56496571	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:56496571C>G	ENST00000264218.3	-	2	274	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	NMU_ENST00000511469.1_Missense_Mutation_p.E57Q|NMU_ENST00000507338.1_Missense_Mutation_p.E57Q|NMU_ENST00000505262.1_Missense_Mutation_p.E57Q|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	57					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TTCCTTACCTCATTCCACAAC	0.323000													19	78					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556410	52556410	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:52556410C>T	ENST00000321725.6	+	60	6606	c.6530C>T	c.(6529-6531)tCg>tTg	p.S2177L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2177					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGAGGAGTCGGAACCACCT	0.647000													10	105					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74468731	74468731	+	Silent	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:74468731A>G	ENST00000437994.2	+	7	1169	c.738A>G	c.(736-738)ttA>ttG	p.L246L	CD109_ENST00000422508.2_Silent_p.L169L|CD109_ENST00000287097.5_Silent_p.L246L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	246						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAGCATTTAAATGGTACCA	0.308000													22	47					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124511029	124511029	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:124511029C>G	ENST00000357628.3	-	7	789	c.191G>C	c.(190-192)gGa>gCa	p.G64A	POT1_ENST00000393329.1_Intron	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	64					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTCATAGTTTCCACTAAAGAG	0.318000													11	45					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114232532	114232532	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:114232532C>T	ENST00000357077.4	+	24	2723	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	ANK2_ENST00000509550.1_Silent_p.S99S|ANK2_ENST00000506722.1_Silent_p.S869S|ANK2_ENST00000264366.6_Silent_p.S890S|ANK2_ENST00000394537.3_Silent_p.S890S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	890					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCGATACAGCTTGGAGGGAG	0.418000													16	36					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372291	76372291	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:76372291T>C	ENST00000407242.2	-	3	588	c.346A>G	c.(346-348)Agt>Ggt	p.S116G	LRRC32_ENST00000260061.5_Missense_Mutation_p.S116G|LRRC32_ENST00000404995.1_Missense_Mutation_p.S116G|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	116						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCACCAGCACTCAGCGCAGTG	0.682000													19	27					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377187	104377187	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:104377187A>T	ENST00000535008.1	+	4	635	c.511A>T	c.(511-513)Atg>Ttg	p.M171L	LHFPL3_ENST00000401970.2_Missense_Mutation_p.M157L|LHFPL3_ENST00000543266.1_Missense_Mutation_p.M171L|LHFPL3_ENST00000424859.1_Missense_Mutation_p.M157L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	157						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AGTAAAACGGATGTGTGGAGA	0.463000													11	25					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25259722	25259722	+	Silent	SNP	C	C	A	rs142521587		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:25259722C>A	ENST00000216962.4	+	9	1139	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	343					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACACCCACCCCGCCCTCTCCA	0.612000													6	19					2.0095e-06	2.12562e-06	1	1	0
TCP10	6953	broad.mit.edu	37	6	167786671	167786671	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:167786671C>T	ENST00000397829.4	-	8	1134	c.967G>A	c.(967-969)Gac>Aac	p.D323N	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	350						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGCCCCATGTCCTGTCTGGAG	0.532000													25	24					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180398	117180398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:117180398C>T	ENST00000003084.6	+	8	1246	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q372*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	372					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAACAAAATACAGGTAATGTA	0.373000									Cystic Fibrosis				13	67					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122944475	122944475	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:122944475C>T	ENST00000448775.2	-	7	1169	c.829G>A	c.(829-831)Gct>Act	p.A277T	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	277						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGAGCTTCAGCATCTTCTCTG	0.493000													20	35					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767843	181767843	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:181767843T>G	ENST00000526775.1	+	46	6794	c.6629T>G	c.(6628-6630)cTg>cGg	p.L2210R	CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2253R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L2272R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2223R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2229R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L2161R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1836R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2272					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCCCACCCCTGCGGCATAGC	0.652000													9	19					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32417902	32417902	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:32417902C>T	ENST00000332351.3	-	7	1434	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	WT1_ENST00000530998.1_Missense_Mutation_p.E155K|WT1_ENST00000379079.2_Missense_Mutation_p.E172K|WT1_ENST00000448076.3_Missense_Mutation_p.E384K	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	316					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.L310fs*63(1)|p.A314fs*65(1)|p.P308fs*67(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCACTGGTCTCAGATGCCGAC	0.527000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				9	50					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211308	38211308	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:38211308C>A	ENST00000379705.3	-	11	3523	c.2666G>T	c.(2665-2667)cGa>cTa	p.R889L	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894L|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748L|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740L|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716L|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716L|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748L|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCTAATCCTCGAGATTCCAG	0.468000													21	57					8.04996e-18	9.15955e-18	1	1	0
CEP290	80184	broad.mit.edu	37	12	88508932	88508932	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:88508932C>G	ENST00000552810.1	-	19	2195	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	CEP290_ENST00000309041.7_Missense_Mutation_p.E620Q|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	618					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTTCTTTTTCAATTAGTTCT	0.254000													9	4					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666842	30666842	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:30666842G>T	ENST00000542965.2	+	9	1790	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.R445L			Q9BWN1	PRR14_HUMAN	proline rich 14	445										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AAGGTTTCTCGATTCAGAATA	0.537000													10	20					0.000673444	0.000684831	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111090620	111090620	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:111090620C>T	ENST00000262839.2	-	6	2340	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	474					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAATCAGAGTCGGGTGCCACA	0.448000													21	19					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8260993	8260993	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:8260993G>A	ENST00000402384.3	-	5	558	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	ICA1_ENST00000407906.1_Missense_Mutation_p.L98F|ICA1_ENST00000422063.2_Missense_Mutation_p.L98F|ICA1_ENST00000265577.7_Missense_Mutation_p.L97F|ICA1_ENST00000396675.3_Missense_Mutation_p.L98F|ICA1_ENST00000406470.2_Missense_Mutation_p.L98F|ICA1_ENST00000401396.1_Missense_Mutation_p.L86F			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	98	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGGATCGAAGAAATTTTCCC	0.433000													32	54					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949030	92949030	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:92949030G>C	ENST00000532405.1	+	13	1488	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	SLC24A4_ENST00000531433.1_Missense_Mutation_p.R402T|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R385T|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R404T|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R357T			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	421						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGAGGCCAGAGGGGACAAG	0.562000													10	36					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187862	81187862	+	RNA	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:81187862C>T	ENST00000533478.1	-	0	2262				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGGCTGCCCCTCGTCGGTGT	0.537000													12	29					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33370088	33370088	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:33370088G>A	ENST00000374796.2	-	4	2641	c.71C>T	c.(70-72)tCa>tTa	p.S24L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S24L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	24	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCCATCTCTGAGTCTTCCAT	0.363000													44	156					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37682234	37682234	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:37682234C>G	ENST00000447079.4	+	13	3458	c.3425C>G	c.(3424-3426)tCc>tGc	p.S1142C	CDK12_ENST00000430627.2_Missense_Mutation_p.S1142C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1142					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACATCCACTCCAACCCAGAG	0.532000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			64	58					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909041	65909041	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:65909041G>C	ENST00000321892.4	+	13	5480	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q	BPTF_ENST00000335221.5_Missense_Mutation_p.E1807Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E1681Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E1668Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1807					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGAGCAAAGAGTATTCCAC	0.458000													17	18					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85506800	85506800	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:85506800C>T	ENST00000370587.1	-	4	665	c.289G>A	c.(289-291)Gca>Aca	p.A97T	MCOLN3_ENST00000341115.4_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.A97T|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	97						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGTTTGAATGCTATAGTATTC	0.378000													11	54					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003787	34003787	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:34003787C>T	ENST00000382491.3	-	28	4223	c.4099G>A	c.(4099-4101)Gga>Aga	p.G1367R	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G1414R|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1453R	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1414	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AATGGGTTTCCAGGAGCAGCA	0.473000													6	32					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030663	32030663	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:32030663T>G	ENST00000360311.4	+	2	641	c.92T>G	c.(91-93)aTa>aGa	p.I31R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GATGTGGCTATAGAATTCTCT	0.483000													22	135					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44949154	44949154	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:44949154T>C	ENST00000377967.4	+	25	3756	c.3715T>C	c.(3715-3717)Tgg>Cgg	p.W1239R	KDM6A_ENST00000536777.1_Missense_Mutation_p.W1194R|KDM6A_ENST00000543216.1_Missense_Mutation_p.W1160R|KDM6A_ENST00000382899.4_Missense_Mutation_p.W1246R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1239	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACATTGCTTGGAATGTTGG	0.363000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								33	5					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648326	130648326	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:130648326G>A	ENST00000229030.4	+	1	1323	c.839G>A	c.(838-840)cGc>cAc	p.R280H	FZD10_ENST00000539839.1_Silent_p.P247P			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	280					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TACCTCATCCGCCTCTTCGCC	0.657000													34	87					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925178	188925178	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:188925178C>G	ENST00000345063.3	+	2	172	c.5C>G	c.(4-6)tCa>tGa	p.S2*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.S2*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	2										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GAAGAAATGTCAACAATTGGG	0.443000													24	40					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284303	159284303	+	Silent	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:159284303A>T	ENST00000332217.5	-	1	146	c.147T>A	c.(145-147)atT>atA	p.I49I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCAGGCGAATAATGGTCATGA	0.478000													25	145					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12327056	12327056	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:12327056C>T	ENST00000358136.3	+	14	1843	c.1713C>T	c.(1711-1713)gtC>gtT	p.V571V	VPS13D_ENST00000356315.4_Silent_p.V571V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	571					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCTTCTAGTCTTCCCTAATC	0.408000													32	45					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846820	47846820	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:47846820T>C	ENST00000339488.4	-	3	1793	c.1760A>G	c.(1759-1761)cAt>cGt	p.H587R		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	587						integral to membrane	hedgehog receptor activity										ATTTCGAAAATGCTGGAATTC	0.423000													9	34					0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													3	36					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33318393	33318393	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:33318393C>T	ENST00000270112.2	+	4	1016	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	219	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.P219Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TACTCGGATCCGTTCAGCACA	0.512000													22	99					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70370906	70370906	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr13:70370906C>A	ENST00000377844.4	-	7	2362	c.1603G>T	c.(1603-1605)Gtc>Ttc	p.V535F	KLHL1_ENST00000545028.1_Missense_Mutation_p.V342F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	535					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGTGGTAAGACAGTCCATGTC	0.343000													9	93					1.76689e-08	1.89761e-08	1	1	0
OCA2	4948	broad.mit.edu	37	15	28273089	28273089	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr15:28273089G>C	ENST00000354638.3	-	4	598	c.443C>G	c.(442-444)tCt>tGt	p.S148C	OCA2_ENST00000382996.2_Missense_Mutation_p.S148C|OCA2_ENST00000353809.5_Missense_Mutation_p.S148C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	148					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGCAGATGCAGACAGACCAGA	0.577000									Oculocutaneous Albinism				19	46					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422761	64422761	+	Silent	SNP	A	A	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:64422761A>C	ENST00000262043.3	+	16	5617	c.5277A>C	c.(5275-5277)gcA>gcC	p.A1759A	PHF3_ENST00000393387.1_Silent_p.A1759A			Q92576	PHF3_HUMAN	PHD finger protein 3	1759					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGATCAGCAGTAGCGACAT	0.398000													46	45					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32344886	32344886	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:32344886C>T	ENST00000302418.4	-	1	473	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	6	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATGTTGCACTCGGCCAGGTCC	0.627000			T	"""RET, ALK"""	NSCLC								22	20					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321281	192321281	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:192321281A>G	ENST00000417209.2	+	4	367	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	65	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGCAGACAAAATTGCTTC	0.363000													34	21					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23300376	23300376	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:23300376A>T	ENST00000258733.4	+	6	1297	c.1002A>T	c.(1000-1002)aaA>aaT	p.K334N	GPNMB_ENST00000453162.2_Missense_Mutation_p.K276N|GPNMB_ENST00000539136.1_Missense_Mutation_p.K235N|GPNMB_ENST00000381990.2_Missense_Mutation_p.K334N			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	334					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GACCTTCAAAACCCACCCCTT	0.488000													19	71					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900904	117900904	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:117900904A>T	ENST00000371666.3	+	8	1041	c.974A>T	c.(973-975)aAa>aTa	p.K325I		NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	325						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GAGGATGACAAACTCTGGAGT	0.328000													33	14					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180536	124180536	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:124180536G>T	ENST00000357821.2	-	1	197	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATCATGCCCAGGTTGCCCACT	0.502000													17	95					9.16793e-09	9.87135e-09	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209358261	209358261	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:209358261C>T	ENST00000272847.2	+	13	1743	c.1530C>T	c.(1528-1530)caC>caT	p.H510H	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	510						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ACTCTTTCCACGAGGAGACCA	0.522000													17	15					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37652383	37652383	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:37652383G>A	ENST00000252011.3	+	17	1677	c.1644G>A	c.(1642-1644)atG>atA	p.M548I	DHX35_ENST00000373323.4_Missense_Mutation_p.M517I|DHX35_ENST00000373325.2_Missense_Mutation_p.M548I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	548						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ACCTCACTATGCTCAATATAT	0.478000													10	47					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100385038	100385038	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:100385038C>T	ENST00000372927.1	+	12	1540	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	CENPI_ENST00000423383.1_Silent_p.I421I|CENPI_ENST00000218507.5_Silent_p.I421I|CENPI_ENST00000372926.1_Silent_p.I421I	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	421					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGGATACCATCATCAGGGCAG	0.338000													24	43					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379116	77379116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:77379116C>A	ENST00000334955.8	+	3	1106	c.1079C>A	c.(1078-1080)tCg>tAg	p.S360*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.S90*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGTGCATCGGTTATCCAT	0.433000													44	70					5.34276e-22	6.14563e-22	1	1	0
HMSD	284293	broad.mit.edu	37	18	61627519	61627519	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr18:61627519T>C	ENST00000408945.3	+	4	552	c.350T>C	c.(349-351)aTa>aCa	p.I117T	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	117						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						GGTGAAAATATATTGTTATTC	0.303000													28	11					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65099830	65099830	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:65099830C>A	ENST00000371073.2	+	7	893	c.893C>A	c.(892-894)tCc>tAc	p.S298Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S247Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1	298	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGGAAAATGTCCACCTTTGTT	0.468000													5	27					1.23904e-05	1.2976e-05	1	1	0
SFTPA2	729238	broad.mit.edu	37	10	81317116	81317116	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:81317116C>T	ENST00000372325.2	-	6	680	c.596G>A	c.(595-597)cGc>cAc	p.R199H	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R199H	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	199	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ATCTGAGTAGCGGAAGTCTCC	0.537000									Pulmonary Fibrosis, Idiopathic				45	179					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75379326	75379326	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:75379326A>G	ENST00000434603.2	-	1	153	c.89T>C	c.(88-90)tTc>tCc	p.F30S	MAP6_ENST00000304771.3_Missense_Mutation_p.F30S|MAP6_ENST00000526740.1_Intron	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	30						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GTACTTGGTGAAAACCAGCGG	0.711000													8	28					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106466592	106466592	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:106466592G>A	ENST00000261402.2	-	5	1988	c.609C>T	c.(607-609)taC>taT	p.Y203Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	203	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TATCCTTCTGGTACAGGTTGG	0.468000													20	51					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108751639	108751639	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:108751639G>C	ENST00000232603.5	-	16	1575	c.1493C>G	c.(1492-1494)tCt>tGt	p.S498C	MORC1_ENST00000483760.1_Missense_Mutation_p.S498C	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	498					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATAATTAGTAGAGGAAGGCAA	0.308000													31	30					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58863875	58863875	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:58863875G>A	ENST00000263100.3	-	4	448	c.387C>T	c.(385-387)atC>atT	p.I129I	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	129	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCGGGGGTGATCCAGGACA	0.607000													30	122					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98422096	98422096	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:98422096C>G	ENST00000186436.5	-	20	2354	c.2126G>C	c.(2125-2127)cGa>cCa	p.R709P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	709						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGACAAAGATCGTATTTGCTG	0.328000													51	67					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20140951	20140951	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:20140951C>T	ENST00000375121.2	-	1	820	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	215						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTCTCTGCAGAAGAGAGT	0.617000													5	21					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892725	166892725	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:166892725T>C	ENST00000423058.2	-	16	3279	c.3262A>G	c.(3262-3264)Act>Gct	p.T1088A	SCN1A_ENST00000375405.3_Missense_Mutation_p.T1077A|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1060A|SCN1A_ENST00000303395.4_Missense_Mutation_p.T1088A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1088						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGCTGCCAGTTCCTATACCA	0.358000													14	51					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020601	5020601	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:5020601C>T	ENST00000382545.3	+	2	1164	c.57C>T	c.(55-57)ccC>ccT	p.P19P	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	19					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGGCCACCCCCAGGATGGCA	0.706000													12	44					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986853	141986853	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:141986853A>G	ENST00000389484.3	-	6	1720	c.749T>C	c.(748-750)aTt>aCt	p.I250T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	250					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTGATTCAATCCAACAAAT	0.313000										TSP Lung(27;0.18)			21	38					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377583	124377583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:124377583C>T	ENST00000338354.3	+	38	4661	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1519	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACAGGTGTCGAGGCCGAGT	0.572000													88	302					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223744	44223744	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:44223744G>A	ENST00000244314.5	+	2	1233	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	345						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACTGTCCTGCGGCTCTATTCC	0.667000													10	28					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65308027	65308027	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:65308027G>A	ENST00000301873.5	-	22	3304	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LTBP3_ENST00000532932.1_Silent_p.N442N|LTBP3_ENST00000536982.1_Silent_p.N638N|LTBP3_ENST00000322147.4_Silent_p.N1012N|LTBP3_ENST00000530785.1_Silent_p.N15N|LTBP3_ENST00000529189.1_Silent_p.N15N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1012	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAGGCTGCGTGTTCACGCACT	0.642000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	68					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61083866	61083866	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:61083866C>T	ENST00000301764.7	-	12	1699		c.e12-1		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CATGAGAACTCTGCAGCAGAA	0.532000								Nucleotide excision repair (NER)					27	119					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703308	18703308	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:18703308G>A	ENST00000251296.1	+	8	1499	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	372	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AAGTCTTCCCGGAGCCCATGT	0.672000													13	19					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087094	47087094	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:47087094T>C	ENST00000374312.1	+	3	730	c.311T>C	c.(310-312)aTg>aCg	p.M104T	NPY4R_ENST00000395716.1_Missense_Mutation_p.M104T	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		TACACCATCATGGACTACTGG	0.582000													27	143					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325108	12325108	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr18:12325108C>G	ENST00000317702.5	+	4	554	c.320C>G	c.(319-321)aCg>aGg	p.T107R	TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000592683.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	107					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGGCACTACACGGAGGGCGCG	0.642000													101	25					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12430547	12430547	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:12430547G>T	ENST00000293725.5	-	4	497	c.292C>A	c.(292-294)Cct>Act	p.P98T	ZNF563_ENST00000595977.1_Missense_Mutation_p.P98T	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTTCTCCAGGACAAATGCTG	0.403000													74	76					5.02462e-34	5.82746e-34	1	1	0
GSK3A	2931	broad.mit.edu	37	19	42737288	42737288	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:42737288G>C	ENST00000398249.4	-	7	2539	c.826C>G	c.(826-828)Cag>Gag	p.Q276E	GSK3A_ENST00000222330.3_Missense_Mutation_p.Q358E			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	358	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GCTTTAATCTGAGGGAACTTG	0.567000													24	87					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375806	46375806	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:46375806C>T	ENST00000302177.2	+	2	740	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	181					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGCGCGTTCCCCAGACAAGC	0.587000													19	27					0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132980228	132980228	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr9:132980228C>T	ENST00000372398.3	+	3	293	c.207C>T	c.(205-207)ttC>ttT	p.F69F	NCS1_ENST00000458469.1_Silent_p.F51F	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	69	EF-hand 2.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CATTTGTTTTCAACGTCTTTG	0.567000													25	94					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870095	151870095	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:151870095C>G	ENST00000329342.5	+	3	1010	c.785C>G	c.(784-786)cCc>cGc	p.P262R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	262	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCAGGTCCCCGGCAGTGAT	0.527000													60	91					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415842	130415842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:130415842G>T	ENST00000370904.1	-	14	2206	c.1296C>A	c.(1294-1296)tgC>tgA	p.C432*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.C441*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.C441*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.C432*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	441	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGATACTCGGCACTGAAGGG	0.463000													28	11					2.65835e-16	3.00044e-16	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26315413	26315413	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:26315413C>T	ENST00000265944.5	+	10	1071	c.905C>T	c.(904-906)aCg>aTg	p.T302M	MYO3A_ENST00000543632.1_Missense_Mutation_p.T302M	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAACTAACGGAATTCATT	0.353000													6	59					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242345	3242345	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:3242345G>C	ENST00000217939.6	-	5	1535	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	461						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATATTGTTTGAGAATACTGG	0.498000													93	21					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119563229	119563229	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:119563229C>A	ENST00000267260.4	+	7	947	c.559C>A	c.(559-561)Cgc>Agc	p.R187S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	187	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGCCATCACCGCTGCCCCTC	0.622000													9	31					2.80697e-09	3.09355e-09	1	1	0
NEU3	10825	broad.mit.edu	37	11	74717221	74717221	+	Missense_Mutation	SNP	C	C	G	rs7936249		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:74717221C>G	ENST00000294064.4	+	3	1997	c.1070C>G	c.(1069-1071)cCg>cGg	p.P357R	NEU3_ENST00000531509.1_Missense_Mutation_p.P357R|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Missense_Mutation_p.P248R|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Missense_Mutation_p.P324R	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	357										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTGGAACACCGTCAGAATCA	0.547000													20	30					0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8467391	8467391	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:8467391C>G	ENST00000328024.6	+	4	671	c.453C>G	c.(451-453)atC>atG	p.I151M	RAB11B_ENST00000601897.1_Missense_Mutation_p.I32M|RAB11B_ENST00000594216.1_Missense_Mutation_p.I151M	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	151					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TGTCCTTCATCGAGACCTCAG	0.567000													13	18					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928812	35928812	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:35928812G>A	ENST00000490799.1	-	13	1879	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	SLC26A8_ENST00000355574.2_Missense_Mutation_p.S509L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.S404L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	509					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGAAACTACTGAGATAATTAG	0.413000													18	56					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183670895	183670895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:183670895G>T	ENST00000334444.6	-	18	2886	c.2646C>A	c.(2644-2646)taC>taA	p.Y882*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Y882*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	882	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTGATCCAGTAACTCAACC	0.507000													17	87					2.5808e-16	2.92074e-16	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10742563	10742563	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:10742563G>C	ENST00000586078.1	+	9	755	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	SLC44A2_ENST00000335757.5_Missense_Mutation_p.E216Q|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E214Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	216					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGAGTCCTAGAGGCGCGGCA	0.577000													13	62					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627986	70627986	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:70627986A>G	ENST00000449580.1	+	28	4417	c.4366A>G	c.(4366-4368)Agt>Ggt	p.S1456G	TAF1_ENST00000423759.1_Missense_Mutation_p.S1477G|TAF1_ENST00000276072.3_Missense_Mutation_p.S1477G|TAF1_ENST00000373790.4_Missense_Mutation_p.S1456G			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1456	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTGAAAAATAGTGCAACCTA	0.448000													32	8					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216287	55216287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:55216287G>T	ENST00000340465.2	+	5	693	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	203						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAGTCCAAAGAAGCTCTTCA	0.438000													48	33					2.56175e-15	2.88368e-15	1	1	0
KRT73	319101	broad.mit.edu	37	12	53001990	53001990	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:53001990G>A	ENST00000305748.3	-	9	1647	c.1613C>T	c.(1612-1614)aCc>aTc	p.T538I	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTATCTCATGGTTTTTTTGGT	0.532000													32	120					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15976866	15976866	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:15976866C>T	ENST00000268712.3	-	28	3945	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E1246K|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1230	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.E1230K(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAGTCCCTTCTCGGGCATTC	0.393000													10	35					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903845	88903845	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:88903845C>T	ENST00000237623.7	+	6	848	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SPP1_ENST00000360804.4_Missense_Mutation_p.R221W|SPP1_ENST00000395080.3_Missense_Mutation_p.R248W|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	248					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATTATATAAGCGGAAAGCCAA	0.473000													16	69					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621641	171621641	+	Silent	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:171621641G>T	ENST00000037502.6	-	1	182	c.111C>A	c.(109-111)ctC>ctA	p.L37L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response						anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTTCCTGAGCTGAGCTG	0.602000													7	29					5.18039e-06	5.45236e-06	1	1	0
TIMM44	10469	broad.mit.edu	37	19	8000031	8000031	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:8000031C>G	ENST00000270538.3	-	4	581		c.e4-1			NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)						protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGATGGTTTTCTAGGTAAAGA	0.532000													3	13					0	0	1	0	0
FOXI3	344167	broad.mit.edu	37	2	88751474	88751474	+	RNA	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:88751474C>A	ENST00000398142.3	-	0	657							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						CAGGTTGTGGCGGATGGAGTT	0.657000													10	14					0.000978159	0.000992301	1	1	0
CADPS	8618	broad.mit.edu	37	3	62518601	62518601	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:62518601G>A	ENST00000383710.4	-	13	2585	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	CADPS_ENST00000283269.9_Missense_Mutation_p.P746S|CADPS_ENST00000357948.3_Missense_Mutation_p.P729S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	746					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)		AGAAGGGTGGGGTCGATCATG	0.527000													32	63					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120461311	120461311	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:120461311G>C	ENST00000273375.3	-	1	73	c.44C>G	c.(43-45)tCa>tGa	p.S15*	RABL3_ENST00000483733.1_Nonsense_Mutation_p.S15*|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	15	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CCGCTCACCTGAGTCTCCCAA	0.567000													5	29					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328197	48328197	+	Silent	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:48328197G>C	ENST00000319988.1	+	1	423	c.423G>C	c.(421-423)ctG>ctC	p.L141L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AGTGTGGCCTGCTAGCGGGGG	0.567000													14	77					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33170340	33170340	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:33170340G>A	ENST00000374677.3	+	5	1176	c.803G>A	c.(802-804)cGt>cAt	p.R268H	SLC39A7_ENST00000374675.3_Missense_Mutation_p.R268H|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	268						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCCTCAGAGCGTTCTACCAAG	0.522000													15	83					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													4	86					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783377	43783377	+	Silent	SNP	G	G	A	rs142072140		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:43783377G>A	ENST00000291527.2	-	2	323	c.225C>T	c.(223-225)gaC>gaT	p.D75D		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	75					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CTGGAGGGACGTCGATGGTAT	0.478000													12	39					0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524516	27524516	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr9:27524516G>T	ENST00000276943.2	+	1	205	c.182G>T	c.(181-183)cGa>cTa	p.R61L	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	61					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAATGTCTACGAGAAAACATA	0.438000													16	54					1.15088e-07	1.22974e-07	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	69					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140255495	140255495	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:140255495G>T	ENST00000275884.6	-	11	2395	c.1978C>A	c.(1978-1980)Cgc>Agc	p.R660S	DENND2A_ENST00000496613.1_Missense_Mutation_p.R660S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R660S|DENND2A_ENST00000537639.1_Missense_Mutation_p.R660S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	660	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCAGGAAGGCGCTTCCCTTTG	0.493000													40	58					8.20599e-20	9.41341e-20	1	1	0
NEMF	9147	broad.mit.edu	37	14	50272845	50272845	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:50272845G>T	ENST00000298310.5	-	19	2200	c.1751C>A	c.(1750-1752)cCc>cAc	p.P584H	NEMF_ENST00000545773.1_Missense_Mutation_p.P542H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P563H			O60524	NEMF_HUMAN	nuclear export mediator factor	584						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGGGGGGATGGGTTCTCCTAG	0.463000													8	9					3.09899e-07	3.30297e-07	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129030532	129030532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:129030532C>T	ENST00000274487.4	+	19	3065	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	974	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCAATGAGCAACCATGTCA	0.378000													17	64					0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757305	97757305	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:97757305C>T	ENST00000414820.1	-	3	409	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	FAHD2B_ENST00000272610.3_Missense_Mutation_p.G47R|FAHD2B_ENST00000440566.2_Missense_Mutation_p.G47R|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	47							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CCACCATTCCCTGTCTCCAGG	0.597000													24	35					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842070	8842070	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:8842070G>C	ENST00000324060.2	+	1	755	c.680G>C	c.(679-681)aGc>aCc	p.S227T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGTTCTAAGCATGCGCTCA	0.587000													13	50					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134050984	134050984	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:134050984G>A	ENST00000534548.2	-	20	2611	c.2547C>T	c.(2545-2547)gaC>gaT	p.D849D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	849					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACAGGTCTTCGTCCATATTCC	0.468000													26	37					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680241	43680241	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:43680241C>A	ENST00000404580.1	-	3	578	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	PSG5_ENST00000599812.1_Missense_Mutation_p.V257F|PSG5_ENST00000342951.6_Missense_Mutation_p.V164F|PSG5_ENST00000366175.3_Missense_Mutation_p.V164F|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.V164F			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	164	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AAGGCTAAGACATCCTTATTC	0.498000													121	321					8.93811e-64	1.03949e-63	1	1	0
NRAS	4893	broad.mit.edu	37	1	115256437	115256437	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:115256437C>T	ENST00000369535.4	-	3	527	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	92					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.D92N(2)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTAATATCCGCAAATGAC	0.423000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			41	125					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160321530	160321530	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:160321530C>A	ENST00000368063.1	+	8	998	c.718C>A	c.(718-720)Cta>Ata	p.L240I	NCSTN_ENST00000368065.4_Missense_Mutation_p.L2I|NCSTN_ENST00000294785.5_Missense_Mutation_p.L260I|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_Missense_Mutation_p.L240I			Q92542	NICA_HUMAN	nicastrin	260					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGAGCATGCTAAAGCCTAT	0.483000													5	373					0.000602214	0.00061388	1	1	0
GANAB	23193	broad.mit.edu	37	11	62394122	62394122	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:62394122G>A	ENST00000346178.4	-	22	2513	c.2498C>T	c.(2497-2499)cCt>cTt	p.P833L	GANAB_ENST00000356638.3_Missense_Mutation_p.P811L|GANAB_ENST00000534779.1_Missense_Mutation_p.P719L|GANAB_ENST00000540933.1_Missense_Mutation_p.P714L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	811					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CATCCATCGAGGCACGATTGT	0.547000													3	19					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109051903	109051903	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:109051903C>G	ENST00000261483.4	+	3	1525	c.473C>G	c.(472-474)tCt>tGt	p.S158C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	158					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACTTATGAATCTAATGAATGG	0.368000													14	37					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118378252	118378252	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:118378252G>A	ENST00000534358.1	+	28	10786	c.10763G>A	c.(10762-10764)gGa>gAa	p.G3588E	KMT2A_ENST00000389506.5_Missense_Mutation_p.G3585E|KMT2A_ENST00000354520.4_Missense_Mutation_p.G3547E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGGACTCCAGGAGCAGAGGCT	0.488000													11	23					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374530	16374530	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:16374530C>T	ENST00000375679.4	+	5	600	c.489C>T	c.(487-489)ctC>ctT	p.L163L		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCTTCCTCGGGAAAGTGG	0.627000													4	30					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238046086	238046086	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:238046086G>A	ENST00000366570.4	-	11	1609	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	484					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAATCATGGGGCCTTTGCT	0.398000													11	71					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57496646	57496646	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:57496646G>T	ENST00000219252.5	+	1	348	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	AC009052.12_ENST00000567090.1_RNA|POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	4					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|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GATGCCGTACGCCAACCAGCC	0.652000											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0.000274275	0.000280948	1	1	0
XKR7	343702	broad.mit.edu	37	20	30585077	30585077	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr20:30585077G>A	ENST00000562532.2	+	3	1731	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCGGACAGAGGGGCCTGTCA	0.657000													18	68					0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4461813	4461813	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:4461813A>G	ENST00000179259.4	+	6	836	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	257						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTATTTGTATGAACCTACA	0.398000													8	32					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79494389	79494389	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:79494389C>G	ENST00000264908.6	+	3	450	c.71C>G	c.(70-72)gCt>gGt	p.A24G	ANXA3_ENST00000503570.2_5'UTR|ANXA3_ENST00000512884.1_Intron	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	24					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCAGTGGATGCTGAAGCTATT	0.378000													12	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432814	179432814	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:179432814G>A	ENST00000589042.1	-	326	78269	c.78045C>T	c.(78043-78045)gtC>gtT	p.V26015V	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.V23447V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V17075V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V24374V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.V16950V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V17142V|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24374	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATTGTTGACTGGTTCAT	0.448000													50	35					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070901	81070901	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:81070901G>C	ENST00000334512.5	+	24	3628	c.3056G>C	c.(3055-3057)gGa>gCa	p.G1019A	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1019					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGTCAGGCCGGAGCGCAGGGA	0.697000													23	62					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110881373	110881373	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:110881373C>A	ENST00000316534.4	-	20	2270	c.2197G>T	c.(2197-2199)Gtg>Ttg	p.V733L	NPHP1_ENST00000393272.3_Missense_Mutation_p.V732L|NPHP1_ENST00000355301.4_Missense_Mutation_p.V614L|NPHP1_ENST00000417665.1_Missense_Mutation_p.V711L|NPHP1_ENST00000445609.2_Missense_Mutation_p.V677L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	732					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CACTGTCACACTGCATTCTTT	0.488000													9	38					7.48243e-07	7.9548e-07	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:145293478C>T	ENST00000342960.5	+	1	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Missense_Mutation_p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	25										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502000													8	1321					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64833039	64833039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:64833039C>T	ENST00000332707.5	+	23	3278	c.2749C>T	c.(2749-2751)Cag>Tag	p.Q917*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	917	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAATGTGTTCAGTATCTTCA	0.363000													24	44					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110995	106110995	+	RNA	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:106110995C>T	ENST00000390545.2	-	0	132																											CTGGTCAGAGCGCCTGAGTTC	0.662000													5	20					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138312124	138312124	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:138312124G>A	ENST00000421622.1	-	8	1000	c.792C>T	c.(790-792)ttC>ttT	p.F264F	SVOPL_ENST00000436657.1_Silent_p.F232F|SVOPL_ENST00000288513.5_Silent_p.F232F|SVOPL_ENST00000419765.3_Silent_p.F384F|SVOPL_ENST00000463557.1_5'UTR			Q8N434	SVOPL_HUMAN	SVOP-like	384						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GGAGAAGGAAGAATAAAGCCG	0.408000													7	66					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30804884	30804884	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr18:30804884A>T	ENST00000383096.3	-	17	1855	c.1673T>A	c.(1672-1674)aTt>aAt	p.I558N	CCDC178_ENST00000402325.1_Missense_Mutation_p.I558N|CCDC178_ENST00000579947.1_Missense_Mutation_p.I558N|CCDC178_ENST00000583930.1_Missense_Mutation_p.I558N|CCDC178_ENST00000300227.8_Missense_Mutation_p.I558N|CCDC178_ENST00000406524.2_Missense_Mutation_p.I558N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.I558N					coiled-coil domain containing 178																		GACTTCGTAAATGGAATATAG	0.353000													52	19					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058952	11058952	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:11058952G>A	ENST00000287766.4	+	3	476	c.55G>A	c.(55-57)Gag>Aag	p.E19K	SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	19					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CGAGGTCAGCGAGGCCCCTGT	0.637000													31	30					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													3	53					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24044935	24044935	+	Silent	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:24044935G>A	ENST00000397118.3	-	4	2012	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	JPH4_ENST00000356300.4_Silent_p.A370A	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	370					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCACTCACGGCTCGACGGG	0.697000													4	5					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465496	10465496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:10465496C>A	ENST00000382483.3	-	4	6335	c.6112G>T	c.(6112-6114)Gaa>Taa	p.E2038*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2038					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCTCCCCTTCAACCTCCTGG	0.617000													51	100					2.29192e-23	2.64355e-23	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186043953	186043953	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:186043953C>T	ENST00000271588.4	+	53	8449	c.8220C>T	c.(8218-8220)acC>acT	p.T2740T	HMCN1_ENST00000367492.2_Silent_p.T2740T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2740	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCAGACACCGGACGATATA	0.348000													39	32					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64664432	64664432	+	Silent	SNP	C	C	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:64664432C>G	ENST00000543942.2	-	12	2273	c.1647G>C	c.(1645-1647)ctG>ctC	p.L549L	C12orf56_ENST00000333722.5_Silent_p.L389L|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	552										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AGGGACTTAGCAGCTGAAATG	0.443000													8	45					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22910240	22910240	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr21:22910240G>A	ENST00000400546.1	+	18	2725	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N	NCAM2_ENST00000284894.7_Missense_Mutation_p.D684N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	826					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.D826Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTTTCTAACGACATCATTCA	0.343000													17	30					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139164435	139164435	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:139164435C>T	ENST00000340940.4	-	3	1012	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	315	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					TGGCTGGCTTCCCAGGCCTGC	0.602000													15	82					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100599082	100599082	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr14:100599082A>T	ENST00000544450.2	+	8	1161	c.878A>T	c.(877-879)aAg>aTg	p.K293M	EVL_ENST00000402714.2_Missense_Mutation_p.K287M|EVL_ENST00000392920.3_Missense_Mutation_p.K289M			Q9UI08	EVL_HUMAN	Enah/Vasp-like	287	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CAGTCAGACAAGCCAGCCGAG	0.572000													19	37					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914439	39914439	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:39914439A>G	ENST00000425673.1	+	17	2904	c.2579A>G	c.(2578-2580)gAg>gGg	p.E860G	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E830G|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E889G|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	889					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTGCCCAGGAGTCTGTCCCC	0.572000													26	51					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38897654	38897654	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:38897654G>T	ENST00000588262.1	+	4	473	c.454G>T	c.(454-456)Gtc>Ttc	p.V152F	FAM98C_ENST00000252530.5_Silent_p.L285L|FAM98C_ENST00000343358.7_Intron			Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	0										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGCCGACCTGTCTTGTCTCG	0.607000													56	99					9.72345e-25	1.12461e-24	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43840442	43840442	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:43840442G>C	ENST00000389420.3	-	15	2152	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S718C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	718	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTGCATGAAGAGTTGTCCCC	0.373000													13	25					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978725	1978725	+	Silent	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:1978725G>C	ENST00000255641.8	+	5	918	c.423G>C	c.(421-423)acG>acC	p.T141T		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	141	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCAAGACGGTGCTGATGA	0.711000													3	8					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10799940	10799940	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:10799940C>T	ENST00000449870.1	+	20	2966	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	ILF3_ENST00000590261.1_Silent_p.G879G|ILF3_ENST00000588657.1_Silent_p.G883G|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Silent_p.G879G	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	879	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCTCACAAGGCGGCTATGGCA	0.572000													19	102					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201627	140201627	+	Silent	SNP	C	C	T	rs148967528	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr5:140201627C>T	ENST00000529859.1	+	1	267	c.267C>T	c.(265-267)atC>atT	p.I89I	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.I89I|PCDHA5_ENST00000529619.1_Silent_p.I89I|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.627000													68	90					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104704022	104704022	+	Silent	SNP	A	A	G			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:104704022A>G	ENST00000334877.4	+	5	945	c.411A>G	c.(409-411)aaA>aaG	p.K137K	KMT2E_ENST00000311117.3_Silent_p.K137K|KMT2E_ENST00000476671.1_Silent_p.K137K|KMT2E_ENST00000257745.4_Silent_p.K137K|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		GTTGTGACAAATGCAGGTAAA	0.338000													10	40					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790872	41790872	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:41790872G>C	ENST00000396930.3	-	18	5409	c.4866C>G	c.(4864-4866)agC>agG	p.S1622R	KAT6A_ENST00000265713.2_Missense_Mutation_p.S1622R|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1622R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1622	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GCTGGACGCTGCTCTGCTGCA	0.642000													31	15					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16271479	16271479	+	Missense_Mutation	SNP	C	C	T	rs72653794		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:16271479C>T	ENST00000205557.7	-	19	2449	c.2420G>A	c.(2419-2421)cGg>cAg	p.R807Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	807	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACGAGAATCCGTGTCTGGGC	0.562000													13	54					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360946	64360946	+	Silent	SNP	C	C	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr11:64360946C>T	ENST00000377574.1	+	3	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000473690.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	192					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.F192F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CAGCTGCCTTCGCCCCTGCCT	0.612000													22	81					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100534121	100534122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:100534121_100534122insT	ENST00000370152.3	+	7	934_935	c.798_799insT	c.(799-801)tttfs	p.F267fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	267					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AATATTCCAGCTTTTTTTTATA	0.386													37	74	---	---	---	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													7	206	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197062232	197062233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr1:197062232_197062233insT	ENST00000367409.4	-	21	9499_9500	c.9243_9244insA	c.(9241-9246)aaatctfs	p.S3082fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.S1497fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.S747fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3082	IQ 37.				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						ATAACTGTAGATTTTTTAAATT	0.351													15	111	---	---	---	---					
PLEKHH2	130271	broad.mit.edu	37	2	43919779	43919780	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:43919779_43919780delTT	ENST00000282406.4	+	4	423_424	c.313_314delTT	c.(313-315)ttgfs	p.L105fs		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	105						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CATTCAAAACTTGGAATTGCAA	0.356													15	79	---	---	---	---					
ANAPC1	64682	broad.mit.edu	37	2	112566567	112566567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr2:112566567delC	ENST00000341068.3	-	29	4561	c.3789delG	c.(3787-3789)gggfs	p.G1263fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1263					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTGAGCTGTCCCTTGATATA	0.478													9	40	---	---	---	---					
GOLGA4	2803	broad.mit.edu	37	3	37369177	37369177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:37369177delG	ENST00000361924.2	+	14	6174	c.5800delG	c.(5800-5802)gggfs	p.G1934fs	GOLGA4_ENST00000356847.4_Frame_Shift_Del_p.G1956fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1934	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAAATTAGCCGGGGCAGAACG	0.423													52	68	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48626289	48626304	+	Splice_Site	DEL	TCAGGGAGCCATACCT	TCAGGGAGCCATACCT	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr3:48626289_48626304delTCAGGGAGCCATACCT	ENST00000328333.8	-	18	2546_2548	c.2439_2441delAGGTATGGCTCCCTGA	c.(2437-2442)gaaggt>gat	p.EG813fs	COL7A1_ENST00000454817.1_Splice_Site_p.EG813fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	813	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGC	0.620													14	58	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68964608	68964610	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr4:68964608_68964610delCAA	ENST00000356291.2	-	2	217_219	c.158_160delTTG	c.(157-162)gttgag>gag	p.V53del		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	53	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TACTTACCCTCAACAACAAAATG	0.360													12	71	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108214774	108214774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr6:108214774delT	ENST00000369002.4	-	16	1765	c.1586delA	c.(1585-1587)aagfs	p.K530fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	530	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K529fs*4(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TAAAGGTTTCTTTTTTTTTGA	0.368													8	131	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000430969.1_In_Frame_Del_p.2664_2665SS>S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													2	4	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													3	3	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													7	291	---	---	---	---					
FAM135B	51059	broad.mit.edu	37	8	139165072	139165072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr8:139165072delG	ENST00000395297.1	-	13	1816	c.1646delC	c.(1645-1647)ccafs	p.P549fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	549										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTCAGCACTGGGGCCTGTCC	0.507										HNSCC(54;0.14)			22	37	---	---	---	---					
COQ4	51117	broad.mit.edu	37	9	131085447	131085450	+	Frame_Shift_Del	DEL	CCCC	CCCC	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr9:131085447_131085450delCCCC	ENST00000609948.1	+	2	538_541	c.223_226delCCCC	c.(223-228)cccccgfs	p.PP75fs	COQ4_ENST00000608951.1_Intron|COQ4_ENST00000300452.3_Intron|COQ4_ENST00000372875.3_Intron			Q9Y3A0	COQ4_HUMAN	coenzyme Q4						ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CCGCGCCTCGCCCCCGTGGGGGCG	0.662													5	8	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75528623	75528623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr10:75528623delT	ENST00000339365.2	+	17	2399	c.2237delT	c.(2236-2238)gttfs	p.V747fs	SEC24C_ENST00000345254.4_Frame_Shift_Del_p.V747fs|SEC24C_ENST00000540668.1_5'UTR|SEC24C_ENST00000535742.1_5'UTR|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Frame_Shift_Del_p.V628fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	747					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTCCAGAAGGTTGTTGGCTTT	0.567													16	40	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124265627	124265628	+	Splice_Site	INS	-	-	T			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr12:124265627_124265628insT	ENST00000409039.3	+	6	464_465	c.439_440insT	c.(439-441)gtt>gTtt	p.V147fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	147	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCATTTCAGGTTTTTTTGCCA	0.371													15	35	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	38	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs72376816	by1000genomes	TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(100-102)gaa>GAACCCgaa	p.34_34E>EPE		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	34	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													29	32	---	---	---	---					
SYMPK	8189	broad.mit.edu	37	19	46321239	46321239	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr19:46321239delA	ENST00000245934.7	-	23	3303	c.3059delT	c.(3058-3060)ctgfs	p.L1020fs	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1020					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GAGGCGGGACAGGATGTTCAT	0.642													2	4	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	RNA	INS	-	-	A			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442																											AGGGCCTAGAGAAAAAAAAAAT	0.421													7	66	---	---	---	---					
GPR50	9248	broad.mit.edu	37	X	150345219	150345219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PD-01A-11D-A38G-08	TCGA-UY-A9PD-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c445a7a3-7c84-4d8e-9675-cb8e640646ba	003b877e-ae86-43ca-a9be-f558d21262c6	g.chrX:150345219delC	ENST00000218316.3	+	1	95	c.26delC	c.(25-27)accfs	p.T9fs	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	9					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGTTCCCACCCCCTATGGC	0.547													17	54	---	---	---	---