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
LRRFIP2	9209	broad.mit.edu	37	3	37100392	37100392	+	Silent	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:37100392G>A	ENST00000421307.1	-	26	2181	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L	LRRFIP2_ENST00000396428.2_Silent_p.L369L|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000336686.4_Silent_p.L587L|LRRFIP2_ENST00000354379.4_Silent_p.L266L|LRRFIP2_ENST00000421276.2_Silent_p.L290L|LRRFIP2_ENST00000440230.1_Silent_p.L290L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	587					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGAAGCTTCAGTTTTCTAATC	0.433000													14	29					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479189	14479189	+	RNA	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr18:14479189C>A	ENST00000581457.1	-	0	719					NR_024076.1																						CAATCATCTGCTCAGGAGTAG	0.542000													3	25					6.4e-05	7.03322e-05	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25470430	25470430	+	RNA	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr15:25470430C>T	ENST00000453082.2	+	0	1061				SNORD115-30_ENST00000364117.1_RNA	NR_003343.1																						ACGCTGAGGCCCAGCCTAGTT	0.493000													39	118					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943490	17943490	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:17943490G>A	ENST00000458235.1	-	19	2617	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	JAK3_ENST00000534444.1_Missense_Mutation_p.R840C|JAK3_ENST00000527670.1_Missense_Mutation_p.R840C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	840	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGGTCATAGCGGCACAGCTCC	0.642000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								15	98					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923805	24923805	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr15:24923805C>T	ENST00000329468.2	+	1	3265	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTAACATCTCCTTCAGTCCA	0.488000													20	68					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126143716	126143716	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:126143716C>T	ENST00000373624.2	-	22	3226	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	DENND1A_ENST00000542603.1_Missense_Mutation_p.E794K|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.E1020K	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	1009						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCGGCTCACTCGAAGGTCTCC	0.667000													4	43					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078641	56078641	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:56078641T>A	ENST00000429804.2	-	9	2101	c.1541A>T	c.(1540-1542)cAt>cTt	p.H514L	CTCFL_ENST00000502686.2_Missense_Mutation_p.H302L|CTCFL_ENST00000433949.2_Missense_Mutation_p.H564L|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.H564L|CTCFL_ENST00000371196.2_Missense_Mutation_p.H564L|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.H564L	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	564					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTCTCCGAATGTCTGTGCAG	0.542000													19	73					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264044	140264044	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:140264044G>A	ENST00000289272.2	+	1	2191	c.2191G>A	c.(2191-2193)Gcg>Acg	p.A731T	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A731T|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAGGGCGCGTGCGCGCC	0.667000													16	79					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394467	152394467	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:152394467C>G	ENST00000397345.3	-	140	21223	c.21021G>C	c.(21019-21021)atG>atC	p.M7007I	NEB_ENST00000604864.1_Missense_Mutation_p.M7007I|NEB_ENST00000409198.1_Missense_Mutation_p.M5306I|NEB_ENST00000603639.1_Missense_Mutation_p.M7007I|NEB_ENST00000427231.2_Missense_Mutation_p.M7007I|NEB_ENST00000172853.10_Missense_Mutation_p.M5306I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5306					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAACTGGCTCATGTAGTTCT	0.413000													3	33					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046880	156046880	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:156046880C>A	ENST00000532414.2	-	2	1047	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	350						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCTCAAAGCCAGAGTCCACT	0.672000													32	50					5.45727e-16	6.92739e-16	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176480	140176480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:140176480G>T	ENST00000526136.1	+	1	1931	c.1931G>T	c.(1930-1932)cGa>cTa	p.R644L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R644L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R644L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCCCCTCGACACCGCCTA	0.632000													25	44					2.41591e-17	3.0793e-17	1	1	0
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7453503	7453503	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:7453503C>G	ENST00000293826.4	+	3	329	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	TNFSF12_ENST00000293825.6_Missense_Mutation_p.R92G|TNFSF12_ENST00000557233.1_Missense_Mutation_p.R92G|TNFSF12_ENST00000462811.1_3'UTR	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		92					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				AGTTCGGCCTCGCAGAAGTGG	0.542000													23	51					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034967	1034967	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:1034967G>A	ENST00000296849.5	+	7	752	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	NKD2_ENST00000537972.1_Missense_Mutation_p.V175I|NKD2_ENST00000274150.4_Missense_Mutation_p.V175I	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	175	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.V175I(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GAAGCTAACCGTCAGCCCTGA	0.617000													9	31					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124632471	124632471	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:124632471C>T	ENST00000311075.3	-	7	1057	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	340	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GCATGCTAAACCATTGAGGCA	0.423000													5	62					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416198	153416198	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:153416198C>T	ENST00000369951.4	+	2	243	c.183C>T	c.(181-183)atC>atT	p.I61I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	61					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGGATGATCTTTGTGGTCA	0.577000													4	84					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126515	99126515	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:99126515G>C	ENST00000370992.4	-	27	3310	c.3199C>G	c.(3199-3201)Cag>Gag	p.Q1067E	RRP12_ENST00000536831.1_Missense_Mutation_p.Q785E|RRP12_ENST00000414986.1_Missense_Mutation_p.Q1006E|RRP12_ENST00000315563.6_Missense_Mutation_p.Q967E|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1067	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTTGCCCTGGGCGGGctcc	0.672000													8	101					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37355555	37355555	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:37355555G>T	ENST00000310758.4	-	3	735	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	ELMO1_ENST00000448602.1_Missense_Mutation_p.L30M|ELMO1_ENST00000442504.1_Missense_Mutation_p.L30M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	30					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATTGCAGACAGTGGTTTTTTC	0.274000													21	117					3.62473e-10	4.28628e-10	1	1	0
MAP1LC3B	81631	broad.mit.edu	37	16	87435794	87435794	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:87435794G>A	ENST00000268607.5	+	3	738	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	MAP1LC3B_ENST00000534986.1_5'UTR|MAP1LC3B_ENST00000565788.1_Missense_Mutation_p.R37Q	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	37					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		ATAATAGAACGATACAAGGGT	0.448000													6	73					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596419	11596419	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:11596419C>T	ENST00000304391.6	+	5	632	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	PTCHD2_ENST00000294484.6_Silent_p.A1285A|PTCHD2_ENST00000389575.3_Silent_p.A1285A			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGCTGGAGGCCGTGCGGCACG	0.682000													9	27					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007775	6007775	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:6007775T>C	ENST00000332249.4	-	1	440	c.386A>G	c.(385-387)gAg>gGg	p.E129G		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCCTGACTCCATGGAGGA	0.537000													6	22					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520370	40520370	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:40520370C>G	ENST00000347077.4	+	7	1409	c.1193C>G	c.(1192-1194)tCa>tGa	p.S398*	ZNF546_ENST00000600094.1_Nonsense_Mutation_p.S372*|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTCATGGCTCATACCTTGTT	0.373000													4	45					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277786	114277786	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:114277786C>T	ENST00000357077.4	+	38	8065	c.8012C>T	c.(8011-8013)gCa>gTa	p.A2671V	ANK2_ENST00000264366.6_Missense_Mutation_p.A2638V|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2638					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)		CCTGAGTTGGCACAGCTTAAA	0.483000													13	66					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65733926	65733926	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:65733926C>A	ENST00000312397.5	+	9	1179	c.1087C>A	c.(1087-1089)Cgg>Agg	p.R363R		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	363					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTGCGGGAGCGGGAGCTGGA	0.652000													8	15					0.0477658	0.0483881	1	1	0
DAD1	1603	broad.mit.edu	37	14	23058008	23058008	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr14:23058008G>C	ENST00000250498.4	-	1	167	c.56C>G	c.(55-57)tCc>tGc	p.S19C	DAD1_ENST00000543337.1_Missense_Mutation_p.S19C|DAD1_ENST00000538631.1_Missense_Mutation_p.S19C	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	19					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		CTGCGGAGTGGAGCTCAAGTA	0.577000													5	67					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3083998	3083998	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:3083998C>T	ENST00000397461.1	+	20	2787	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Silent_p.P801P|CNTN4_ENST00000427331.1_Silent_p.P801P|CNTN4_ENST00000397459.2_Silent_p.P473P|CNTN4_ENST00000448906.2_Silent_p.P473P|CNTN4_ENST00000358480.3_Silent_p.P582P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	801	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTACAGAACCCACCAAACCAC	0.388000													9	30					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70532744	70532744	+	Splice_Site	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:70532744G>C	ENST00000265872.6	+	19	2657		c.e19-1		CCAR1_ENST00000543719.1_Splice_Site|CCAR1_ENST00000535016.1_Splice_Site	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTAAATTATAGAAAGAAGATA	0.363000													3	12					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11535919	11535919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:11535919G>A	ENST00000262442.3	+	8	1602	c.1534G>A	c.(1534-1536)Gtc>Atc	p.V512I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V512I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	512	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATGACGTCTCTGAATT	0.388000													21	45					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	7					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24757591	24757591	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:24757591C>G	ENST00000379068.3	+	20	2183	c.2140C>G	c.(2140-2142)Ctg>Gtg	p.L714V	POLA1_ENST00000379059.3_Missense_Mutation_p.L708V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	708					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AAGCTACCATCTGTCTGAACT	0.383000													3	42					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39921444	39921444	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:39921444T>C	ENST00000342274.4	-	10	4636	c.4274A>G	c.(4273-4275)aAt>aGt	p.N1425S	BCOR_ENST00000378463.1_Missense_Mutation_p.N302S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1407S|BCOR_ENST00000378444.4_Missense_Mutation_p.N1459S|BCOR_ENST00000397354.3_Missense_Mutation_p.N1425S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1459					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N1425S(12)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGCGTTCTTATTGACAATAAG	0.647000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	7					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012281	20012281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr13:20012281G>A	ENST00000400230.2	-	14	1030	c.986C>T	c.(985-987)aCt>aTt	p.T329I	TPTE2_ENST00000390680.2_Missense_Mutation_p.T252I|TPTE2_ENST00000400103.2_Missense_Mutation_p.T218I|TPTE2_ENST00000255310.6_Missense_Mutation_p.T252I|TPTE2_ENST00000382977.4_Missense_Mutation_p.T329I|TPTE2_ENST00000382978.1_Missense_Mutation_p.T289I|TPTE2_ENST00000457266.2_Missense_Mutation_p.T218I|TPTE2_ENST00000382975.4_Missense_Mutation_p.T289I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	329	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAACCATAGTCCCGGTTCt	0.343000													9	42					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20412884	20412884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr13:20412884G>C	ENST00000337963.4	-	5	1092	c.828C>G	c.(826-828)ttC>ttG	p.F276L	ZMYM5_ENST00000382905.4_Missense_Mutation_p.F276L|ZMYM5_ENST00000382907.4_Intron	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	276						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GTTTATGAGAGAAGGAAGAAA	0.373000													6	114					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45850717	45850717	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:45850717C>G	ENST00000470402.1	+	3	644	c.544C>G	c.(544-546)Ccg>Gcg	p.P182A	KLC3_ENST00000585434.1_Missense_Mutation_p.P167A|KLC3_ENST00000391946.2_Missense_Mutation_p.P168A			Q6P597	KLC3_HUMAN	kinesin light chain 3	168	Poly-Glu.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTCTGAGTCCCCGCCTCGCCG	0.622000													6	18					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44156512	44156512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:44156512C>G	ENST00000221264.4	-	5	910	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	PLAUR_ENST00000601723.1_Intron|PLAUR_ENST00000340093.3_Missense_Mutation_p.E207Q|PLAUR_ENST00000339082.3_Missense_Mutation_p.E207Q	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	207	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGCAGATTTTCAAGCTCCAGG	0.532000											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108004609	108004609	+	Silent	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:108004609G>A	ENST00000265838.4	+	3	274	c.183G>A	c.(181-183)ttG>ttA	p.L61L	ACAT1_ENST00000299355.6_Silent_p.L61L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	61					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GCCTTTCCTTGCTGCCAGCCA	0.418000													14	57					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144917856	144917856	+	Silent	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:144917856G>C	ENST00000442628.2	-	18	1621	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	NRBP2_ENST00000327830.5_Silent_p.L251L	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	494					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACGGTACTTGAGGAAGGTGC	0.721000													3	20					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113266516	113266516	+	Missense_Mutation	SNP	C	C	T	rs139968762		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:113266516C>T	ENST00000297405.5	-	63	10320	c.10076G>A	c.(10075-10077)cGg>cAg	p.R3359Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3319Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3190Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3289Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3359	Sushi 27.		R -> Q (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane		p.R3359Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATCCATGCCGAGGCACACC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	152					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196303148	196303148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:196303148G>T	ENST00000367433.5	-	17	1927	c.1826C>A	c.(1825-1827)gCa>gAa	p.A609E	KCNT2_ENST00000451324.2_Missense_Mutation_p.A220E|KCNT2_ENST00000367431.4_Missense_Mutation_p.A559E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.A609E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	609						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGGGCCACTTGCTGATCTACA	0.398000													19	41					2.94398e-08	3.41634e-08	1	1	0
ELAVL4	1996	broad.mit.edu	37	1	50666509	50666509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:50666509G>T	ENST00000371821.1	+	7	1132	c.817G>T	c.(817-819)Gct>Tct	p.A273S	ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371823.4_Missense_Mutation_p.A268S|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	268					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCCCCCTTCTGCTTGTCCCCC	0.522000													16	156					1.42536e-11	1.72485e-11	1	1	0
KLC3	147700	broad.mit.edu	37	19	45850715	45850715	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:45850715C>T	ENST00000470402.1	+	3	642	c.542C>T	c.(541-543)tCc>tTc	p.S181F	KLC3_ENST00000585434.1_Missense_Mutation_p.S166F|KLC3_ENST00000391946.2_Missense_Mutation_p.S167F			Q6P597	KLC3_HUMAN	kinesin light chain 3	167	Poly-Glu.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGTCTGAGTCCCCGCCTCGC	0.617000													6	19					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:52714679C>T	ENST00000322088.6	+	4	495	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652000			Mis		clear cell ovarian carcinoma								5	104					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128977	38128977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr21:38128977C>A	ENST00000399120.1	-	11	3105	c.1875G>T	c.(1873-1875)aaG>aaT	p.K625N	HLCS_ENST00000336648.3_Missense_Mutation_p.K625N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	625					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCAGTTCTGCCTTGTGTTGTT	0.448000													57	102					1.54043e-34	2.01292e-34	1	1	0
SPATA12	353324	broad.mit.edu	37	3	57107825	57107825	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:57107825A>T	ENST00000334325.1	+	2	778	c.103A>T	c.(103-105)Aga>Tga	p.R35*	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	35										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		ATGGCCACCCAGAGGCCTTGG	0.577000													20	36					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153747912	153747912	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:153747912G>A	ENST00000271857.2	+	1	1083	c.323G>A	c.(322-324)gGa>gAa	p.G108E	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G27E			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	27					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCGGAAGGGAGGATCAGGG	0.647000													9	109					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116093269	116093269	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:116093269C>G	ENST00000374193.4	-	4	490	c.244G>C	c.(244-246)Gat>Cat	p.D82H	WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.D81H|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	82										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CCCACCTTATCTTTCCCTCCA	0.443000													10	66					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													4	38					0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742593	23742593	+	RNA	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr22:23742593G>C	ENST00000255890.4	-	0	616																											TTGAGGCCTTGAGGCTCAGGG	0.672000													5	8					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984263	77984263	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:77984263C>T	ENST00000310924.2	-	3	590	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	159						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCTCATCCTCTGGCGCAGGG	0.672000													3	9					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51873958	51873958	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:51873958G>A	ENST00000371733.3	-	15	1418	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Missense_Mutation_p.S118F	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	441					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTCGTAAGTGGAGATCTGCGA	0.418000			T	MLL	ALL								5	104					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630764	140630764	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:140630764C>T	ENST00000520439.1	-	2	925	c.862G>A	c.(862-864)Gcg>Acg	p.A288T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A288T			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGGACGTCCGCCTTGTACCTG	0.667000													9	41					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22444333	22444333	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:22444333T>A	ENST00000334304.5	-	7	1129	c.860A>T	c.(859-861)gAt>gTt	p.D287V	GPR125_ENST00000508133.1_Missense_Mutation_p.D61V|GPR125_ENST00000502482.1_Missense_Mutation_p.D287V|GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	287	Ig-like.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTGCGATTCATCGGTTTCAAC	0.383000													11	42					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47536926	47536926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:47536926G>T	ENST00000455779.1	+	5	494	c.309G>T	c.(307-309)agG>agT	p.R103S	PHKB_ENST00000323584.5_Missense_Mutation_p.R110S|PHKB_ENST00000566044.1_Missense_Mutation_p.R103S|PHKB_ENST00000299167.8_Missense_Mutation_p.R110S|PHKB_ENST00000567402.1_3'UTR			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	110					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAAGGGAAGGACCCATGAGC	0.423000													3	22					0.004672	0.00487581	1	1	0
NDUFA12	55967	broad.mit.edu	37	12	95365362	95365362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:95365362G>A	ENST00000327772.2	-	4	381	c.292C>T	c.(292-294)Cca>Tca	p.P98S	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_3'UTR|NDUFA12_ENST00000550187.1_5'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	98					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	TTTGTTGTTGGAGGATCATCA	0.423000													20	61					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82924119	82924119	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:82924119C>T	ENST00000306270.7	-	12	2578	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	IBTK_ENST00000510291.1_Missense_Mutation_p.D677N|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	677					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTCTGGTTATCATCTTCATGG	0.333000													18	56					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167250697	167250697	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:167250697C>G	ENST00000308378.3	-	8	1272	c.967G>C	c.(967-969)Gat>Cat	p.D323H	WDR49_ENST00000476376.1_Missense_Mutation_p.D148H|WDR49_ENST00000453925.2_Missense_Mutation_p.D387H|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	323										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTCTGGTAATCAGGGTGAAGA	0.393000													7	29					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7664159	7664159	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:7664159C>T	ENST00000572933.1	+	18	4347	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R963W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	963	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGACATGTACCGGGAGATCTG	0.527000													19	38					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53385715	53385715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:53385715C>A	ENST00000229416.6	-	3	790	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	GCLC_ENST00000514004.1_Nonsense_Mutation_p.E103*	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	103					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGTGTCCCTTCAATCATGTAA	0.453000													7	175					0.0293803	0.0299583	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16475273	16475273	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:16475273C>G	ENST00000358432.5	-	3	577	c.423G>C	c.(421-423)aaG>aaC	p.K141N	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	141					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGGTGTCAATCTTGGTGAACA	0.612000													5	41					0	0	1	0	0
HSD17B1	3292	broad.mit.edu	37	17	40705595	40705595	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:40705595C>G	ENST00000585807.1	+	3	4124	c.404C>G	c.(403-405)tCg>tGg	p.S135W	HSD17B1_ENST00000225929.5_Missense_Mutation_p.S135W|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	135					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	AGGCGCGGTTCGGGACGCGTG	0.632000													5	34					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973546	15973546	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:15973546C>A	ENST00000268712.3	-	31	4703	c.4446G>T	c.(4444-4446)cgG>cgT	p.R1482R	NCOR1_ENST00000395857.3_Silent_p.R66R|NCOR1_ENST00000395851.1_Silent_p.R1498R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1482	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			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)		CAGGGGTCCTCCGTGCACTGG	0.493000													7	167					1.12685e-05	1.26516e-05	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179504080	179504080	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:179504080C>G	ENST00000367618.3	+	25	3401	c.3014C>G	c.(3013-3015)tCa>tGa	p.S1005*		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1005										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAAAATTCCTCAAAATCTCCA	0.333000													4	55					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054285	40054285	+	Missense_Mutation	SNP	C	C	A	rs141359252	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr22:40054285C>A	ENST00000336649.4	+	14	2139	c.2139C>A	c.(2137-2139)ttC>ttA	p.F713L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F672L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F672L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F672L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F707L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F707L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	707					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACAACATCTTCGACAGCATCA	0.542000													5	45					0.000602214	0.000648058	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274669	51274669	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:51274669C>T	ENST00000270590.4	+	1	949	c.812C>T	c.(811-813)cCg>cTg	p.P271L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	271						integral to plasma membrane	N-formyl peptide receptor activity	p.P271L(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTCTGGTCCCCGTTTAACGTG	0.597000													6	83					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72301025	72301025	+	Splice_Site	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:72301025G>T	ENST00000334456.5	-	10	1002	c.756_splice	c.e10-1	p.L253_splice	PDE2A_ENST00000444035.2_Splice_Site_p.L244_splice|PDE2A_ENST00000418754.2_Splice_Site_p.L138_splice|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Splice_Site_p.L246_splice|PDE2A_ENST00000540345.1_Splice_Site_p.L244_splice	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	253	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCCTGCTGCAGCTGAGAGAGG	0.677000											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	5					0.00307968	0.00326887	1	1	0
ZRANB3	84083	broad.mit.edu	37	2	135966448	135966448	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:135966448G>C	ENST00000401392.1	-	18	2802	c.2590C>G	c.(2590-2592)Cct>Gct	p.P864A	ZRANB3_ENST00000536680.1_Missense_Mutation_p.P864A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.P866A|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	866						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTGTGAAAGGATCCCGTGGC	0.388000													13	44					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:39197393T>C	ENST00000306271.4	-	1	320	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7).			extracellular region|keratin filament		p.Y86C(4)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587000													6	50					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275359	113275359	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:113275359G>T	ENST00000401783.2	-	5	1486	c.1150C>A	c.(1150-1152)Ccc>Acc	p.P384T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P361T|SVEP1_ENST00000302728.8_Missense_Mutation_p.P384T|SVEP1_ENST00000374461.1_Missense_Mutation_p.P361T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	384	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCATTTTCGGGAGGCTTCAGG	0.403000													17	30					1.5739e-10	1.87541e-10	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78347201	78347201	+	Silent	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:78347201T>A	ENST00000255189.3	-	5	682	c.654A>T	c.(652-654)ccA>ccT	p.P218P	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	218					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAGAAGTTACTGGTGCAGGAT	0.448000													44	131					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357249	112357249	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:112357249G>C	ENST00000206423.3	-	2	2457	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V	CCDC80_ENST00000439685.2_Missense_Mutation_p.L502V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	502	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCATTACTAAGAATTTTGTCC	0.532000													8	68					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210893664	210893664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:210893664C>A	ENST00000281772.9	-	11	2564	c.2301G>T	c.(2299-2301)gaG>gaT	p.E767D	KANSL1L_ENST00000418791.1_Missense_Mutation_p.E725D	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	767																	CATAAGAGCTCTCACTTCTCA	0.378000													4	47					0.00909568	0.00933583	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183097864	183097864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:183097864C>T	ENST00000258341.4	+	18	3516	c.3259C>T	c.(3259-3261)Cgt>Tgt	p.R1087C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1087	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACCTCCTTCGTGAGGCCCA	0.468000													7	68					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043167	56043167	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:56043167T>A	ENST00000313033.2	+	1	139	c.53T>A	c.(52-54)tTt>tAt	p.F18Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTAAACAATTTTACTGAAGTC	0.294000													69	105					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422958	58422958	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:58422958C>G	ENST00000300896.4	-	2	264	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	USP32_ENST00000393003.3_Missense_Mutation_p.E24Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	24					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CGTTTTAGCTCTACATCTGTA	0.438000													9	81					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917577	32917577	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr18:32917577C>G	ENST00000261332.6	-	4	905	c.726G>C	c.(724-726)aaG>aaC	p.K242N	ZNF24_ENST00000399061.3_Missense_Mutation_p.K242N|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	242					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGGGATTTCTCTTTCTTTCAA	0.408000													21	82					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899419	103899419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:103899419C>G	ENST00000278070.2	+	5	1193	c.1154C>G	c.(1153-1155)tCt>tGt	p.S385C	PPRC1_ENST00000413464.2_Missense_Mutation_p.S385C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGACTAGTTCTGCCTTGCAG	0.572000													6	123					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204966443	204966443	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:204966443C>T	ENST00000367172.4	+	27	3577	c.3249C>T	c.(3247-3249)acC>acT	p.T1083T	NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338515.6_Silent_p.T1083T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Silent_p.T1068T|NFASC_ENST00000339876.6_Silent_p.T976T|NFASC_ENST00000401399.1_Silent_p.T976T|NFASC_ENST00000338586.6_Intron			O94856	NFASC_HUMAN	neurofascin	1083	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccaccaccaccgtcgccacaa	0.602000													3	16					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081461	157081461	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:157081461C>G	ENST00000362010.2	-	9	1734	c.1427G>C	c.(1426-1428)aGc>aCc	p.S476T	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.S476T|VEPH1_ENST00000392833.2_Missense_Mutation_p.S476T|VEPH1_ENST00000543418.1_Missense_Mutation_p.S476T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	476						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAGAGAGATGCTGGCTGGTAT	0.473000													4	82					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54850702	54850702	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:54850702G>T	ENST00000333896.5	+	9	1497	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R384L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	384					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TACATGCCCCGGGAGGGGAAG	0.522000													4	56					0.150653	0.151629	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851961	31851961	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr22:31851961C>A	ENST00000397525.1	-	8	1199	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.V326F|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.V326F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.V5F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.V163F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	326						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTCCCAAAACATCTTCTATC	0.413000											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	30					0.000442599	0.000477946	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468668	56468668	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:56468668A>T	ENST00000312153.1	+	1	805	c.805A>T	c.(805-807)Atg>Ttg	p.M269L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TTCTTTTGATATGGACAAAAT	0.418000													74	211					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113264	136113264	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:136113264G>T	ENST00000298110.1	-	1	569	c.570C>A	c.(568-570)ccC>ccA	p.P190P		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	190						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGTGTAGCTGGGGCTGGCCC	0.582000													20	27					2.39187e-15	3.01163e-15	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33157109	33157109	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:33157109G>C	ENST00000341947.2	-	2	447	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	COL11A2_ENST00000374712.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q74E|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000395194.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q74E|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q74E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	74	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAAAAGCTGGCGAGTGGGT	0.632000													7	31					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12200290	12200290	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:12200290C>T	ENST00000287814.4	-	1	561	c.51G>A	c.(49-51)ctG>ctA	p.L17L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	17							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCAACGCCAGCAGCCGCAGCA	0.706000													3	25					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70209149	70209149	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:70209149C>G	ENST00000550536.1	+	11	1811	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Q230E|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Q143E|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Q230E|RAB3IP_ENST00000483530.2_3'UTR|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Q230E|RAB3IP_ENST00000247833.7_Missense_Mutation_p.Q436E	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	452					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TATAGTTGATCAGATGTTTTG	0.363000													18	51					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633722	106633722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:106633722G>A	ENST00000378026.4	-	2	1025	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	297						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GCTGAGGTCTGTATCTCCTTC	0.517000													40	111					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92146862	92146862	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:92146862C>G	ENST00000248633.4	-	5	1062	c.967G>C	c.(967-969)Gat>Cat	p.D323H	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.D323H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	323					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GGCTCTACATCAAAATATTCC	0.378000													11	32					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773573	35773573	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:35773573C>T	ENST00000360215.1	+	1	503	c.126C>T	c.(124-126)gcC>gcT	p.A42A	LHFPL5_ENST00000373853.1_Silent_p.A42A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	42						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGTCATGGCCCTCTTCATCC	0.592000													16	107					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612759	16612759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:16612759C>A	ENST00000443444.2	+	5	1528	c.1388C>A	c.(1387-1389)aCa>aAa	p.T463K	CCDC144A_ENST00000340621.5_Missense_Mutation_p.T462K|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.T463K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.T463K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.T463K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	463																	AGTGGCAGTACAAACAACTAT	0.348000													11	30					1.58986e-06	1.79148e-06	1	1	0
MBOAT1	154141	broad.mit.edu	37	6	20109946	20109946	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:20109946G>A	ENST00000541730.1	-	11	1392	c.797C>T	c.(796-798)tCa>tTa	p.S266L	MBOAT1_ENST00000324607.7_Missense_Mutation_p.S415L			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	415					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GAGAGCTCTTGAAGAAAGGAA	0.493000													9	50					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171614	43171614	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:43171614G>A	ENST00000252050.4	+	20	4132	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	CUL9_ENST00000372647.2_Missense_Mutation_p.E1350K|CUL9_ENST00000354495.3_Missense_Mutation_p.E1240K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1350					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGCGCCACGAGCAGAATTT	0.582000													12	138					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865081	51865081	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:51865081C>G	ENST00000453097.2	+	14	1886	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.L584V|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.L504V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.L504V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L504V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	557					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGACTATGCTCTTTCATACCT	0.438000													8	182					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102721667	102721667	+	Nonstop_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:102721667T>C	ENST00000238961.3	+	20	3668	c.3520T>C	c.(3520-3522)Taa>Caa	p.*1174Q		NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	0																	ACCAGATTCTTAATAGGAGTT	0.343000													16	29					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609090	95609090	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:95609090C>G	ENST00000395505.2	-	3	1963	c.1871G>C	c.(1870-1872)gGa>gCa	p.G624A	ZNF484_ENST00000395506.3_Missense_Mutation_p.G662A|ZNF484_ENST00000332591.6_Missense_Mutation_p.G624A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.G660A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGGTTTCTCTCCAGTGTGAAT	0.423000													26	55					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59067511	59067511	+	Missense_Mutation	SNP	T	T	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:59067511T>G	ENST00000589222.1	+	15	1469	c.1401T>G	c.(1399-1401)atT>atG	p.I467M	BCAS3_ENST00000407086.3_Missense_Mutation_p.I467M|BCAS3_ENST00000588462.1_Missense_Mutation_p.I467M|BCAS3_ENST00000585744.1_Missense_Mutation_p.I238M|BCAS3_ENST00000588874.1_Missense_Mutation_p.I238M|BCAS3_ENST00000408905.3_Missense_Mutation_p.I467M|BCAS3_ENST00000390652.5_Missense_Mutation_p.I467M			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	467						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGGAAGAGATTGAACAAGAAC	0.498000													5	56					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3176672	3176672	+	Splice_Site	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:3176672G>C	ENST00000355072.5	+	33	4390		c.e33-1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		cttttttATAGAATGCTATTC	0.338000													3	20					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794141	140794141	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:140794141G>C	ENST00000398610.2	+	1	1399	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATATCCCAGAGAACAACGC	0.493000													16	148					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866221	131866221	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:131866221G>T	ENST00000359827.3	-	18	4373	c.3411C>A	c.(3409-3411)acC>acA	p.T1137T	PLXNA4_ENST00000321063.4_Silent_p.T1137T			Q9HCM2	PLXA4_HUMAN	plexin A4	1137	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGATAGTAGGTGAAGTTGG	0.577000													30	71					7.26314e-15	9.03535e-15	1	1	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													3	4					0.00909568	0.00933583	1	1	0
OR1D4	653166	broad.mit.edu	37	17	3143987	3143987	+	RNA	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:3143987G>T	ENST00000531680.1	+	0	18					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		GAGATAACCAGAGTGAGAACT	0.448000													5	41					3.59834e-05	3.99672e-05	1	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12939868	12939868	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:12939868C>G	ENST00000235349.5	-	4	1004	c.934G>C	c.(934-936)Gac>Cac	p.D312H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	312								p.D312N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTCAAGTCTGATTCCAAA	0.458000													13	129					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235933492	235933492	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:235933492G>A	ENST00000389794.3	-	20	6064	c.5890C>T	c.(5890-5892)Cat>Tat	p.H1964Y	LYST_ENST00000389793.2_Missense_Mutation_p.H1964Y|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1964					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGTGATGAACCACTTGA	0.358000													6	127					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72495002	72495002	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:72495002C>G	ENST00000373208.1	+	9	1439	c.1439C>G	c.(1438-1440)tCa>tGa	p.S480*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.S477*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	477	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATCAACTACTCAATGGATGAG	0.597000													3	24					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703625	55703625	+	Silent	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:55703625C>G	ENST00000301532.3	-	1	251	c.252G>C	c.(250-252)ctG>ctC	p.L84L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAAATTGACCAGCATTTTGG	0.393000													19	48					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182196	120182196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:120182196G>A	ENST00000328078.1	+	1	735	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	220					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCCTGGCGTTGATGTGCCTGC	0.468000													5	102					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	49					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579644	43579644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:43579644G>C	ENST00000406487.1	-	3	669	c.571C>G	c.(571-573)Cat>Gat	p.H191D		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	191	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGAAACCTATGAGTCATAGGG	0.498000													25	334					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157622	154157622	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:154157622C>T	ENST00000360256.4	-	14	4643	c.4443G>A	c.(4441-4443)ctG>ctA	p.L1481L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1481	B.		L -> P (in dbSNP:rs1800294).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTTGTCCCCAGGGAGCCAA	0.423000													5	68					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58625859	58625859	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:58625859G>C	ENST00000358781.2	-	7	678	c.368C>G	c.(367-369)tCt>tGt	p.S123C		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	123					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCTACCTCCAGAGTACATGTC	0.567000													36	78					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28815538	28815538	+	Silent	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:28815538G>C	ENST00000422425.2	+	31	2210	c.2166G>C	c.(2164-2166)ctG>ctC	p.L722L	PLB1_ENST00000327757.5_Silent_p.L733L|PLB1_ENST00000329020.6_Silent_p.L421L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	733	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCATGCCCTGAGACCTGCAG	0.552000													13	57					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264541	13264541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:13264541C>T	ENST00000588173.1	+	1	1753	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	IER2_ENST00000587885.1_Missense_Mutation_p.R181C|IER2_ENST00000292433.3_Missense_Mutation_p.R181C|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	181								p.A175fs*42(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTGCAGAGGCGCTTCTCCGG	0.726000													7	10					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819750	141819750	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:141819750G>T	ENST00000389484.3	-	8	2077	c.1106C>A	c.(1105-1107)aCa>aAa	p.T369K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	369					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)		TGGCTGCTCTGTCTTTGAATC	0.428000										TSP Lung(27;0.18)			24	55					2.89027e-11	3.4572e-11	1	1	0
OFD1	8481	broad.mit.edu	37	X	13762578	13762578	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:13762578G>T	ENST00000380567.1	+	7	909	c.37G>T	c.(37-39)Gct>Tct	p.A13S	OFD1_ENST00000380550.3_Missense_Mutation_p.A153S|OFD1_ENST00000398395.3_Missense_Mutation_p.A153S|OFD1_ENST00000340096.6_Missense_Mutation_p.A153S|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	153					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATATCATCAAGCTAAAGAGAG	0.328000													6	28					0.00116845	0.00124875	1	1	0
KRT13	3860	broad.mit.edu	37	17	39658972	39658972	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:39658972G>T	ENST00000246635.3	-	5	1036	c.990C>A	c.(988-990)ggC>ggA	p.G330G	KRT13_ENST00000587544.1_Silent_p.G330G|KRT13_ENST00000336861.3_Silent_p.G330G	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	330	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAATCTCCAGGCCTTGGAGCG	0.587000													37	75					1.36161e-19	1.74984e-19	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72993740	72993740	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:72993740G>A	ENST00000268489.5	-	2	977	c.305C>T	c.(304-306)gCg>gTg	p.A102V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	102					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGGGCGCGCGCTGGGGCA	0.687000													8	20					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603877	52603877	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr13:52603877A>T	ENST00000521776.2	+	2	1670	c.937A>T	c.(937-939)Aaa>Taa	p.K313*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	313					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AATTATGGCCAAATATGACCT	0.453000													24	73					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487940	108487940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:108487940C>G	ENST00000408999.3	+	20	3557	c.3480C>G	c.(3478-3480)ttC>ttG	p.F1160L	RGPD4_ENST00000354986.4_Missense_Mutation_p.F1160L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1160	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGAAGAATTCAAGCAGAAAT	0.433000													5	110					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034902	79034902	+	Silent	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:79034902A>T	ENST00000446378.2	+	2	10345	c.10314A>T	c.(10312-10314)tcA>tcT	p.S3438S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3438						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACATATTATCAGAAGAACTGT	0.423000													12	47					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559930	11559930	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:11559930C>T	ENST00000252455.2	+	16	1716	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	PRKCSH_ENST00000587327.1_Silent_p.F457F|PRKCSH_ENST00000592741.1_Silent_p.F467F|PRKCSH_ENST00000589838.1_Silent_p.F460F|PRKCSH_ENST00000412601.1_Silent_p.F457F|PRKCSH_ENST00000591462.1_Silent_p.F457F	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	460	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACGACAAGTTCAGTGCCATGA	0.672000													9	48					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214794039	214794039	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:214794039C>T	ENST00000366955.3	+	6	783	c.615C>T	c.(613-615)cgC>cgT	p.R205R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	205	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAATCACCGCGACATTGCCC	0.428000													8	202					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253605	30253605	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:30253605C>A	ENST00000417547.1	+	2	195	c.156C>A	c.(154-156)acC>acA	p.T52T	FSHB_ENST00000254122.3_Silent_p.T52T|FSHB_ENST00000533718.1_Silent_p.T52T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	52					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	ACTGCTACACCAGGGTAGGTA	0.413000													25	38					3.28513e-13	4.03824e-13	1	1	0
ZNF543	125919	broad.mit.edu	37	19	57839917	57839917	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:57839917G>A	ENST00000321545.4	+	4	1432	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GATTCACACTGGAGTGAAACC	0.498000													17	54					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156528539	156528539	+	RNA	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:156528539T>A	ENST00000472943.1	-	0	148					NR_038387.1																						CTACCACCACTGCAATCTCGT	0.577000													8	17					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220112151	220112151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:220112151C>T	ENST00000409638.3	+	5	627	c.455C>T	c.(454-456)aCc>aTc	p.T152I	STK16_ENST00000409260.1_Missense_Mutation_p.T197I|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000396738.2_Missense_Mutation_p.T152I|STK16_ENST00000409516.3_Missense_Mutation_p.T34I|STK16_ENST00000409743.1_Missense_Mutation_p.T152I	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	152	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGAAGCCCACCAATATATTG	0.498000													39	140					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124116902	124116902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:124116902C>G	ENST00000424014.2	-	2	313	c.105G>C	c.(103-105)aaG>aaC	p.K35N	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Missense_Mutation_p.K22N|EIF2B1_ENST00000537073.1_Missense_Mutation_p.K35N	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	35					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CTTTATCTCTCTTCAAGAACT	0.383000													39	101					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120795660	120795660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:120795660G>T	ENST00000378164.2	-	16	2371	c.2073C>A	c.(2071-2073)ttC>ttA	p.F691L		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	691					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACTCTGTAGAAACACTGCT	0.368000													26	67					4.87955e-14	6.04598e-14	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:41266101C>T	ENST00000349496.5	+	3	378	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				4	30					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884626	13884626	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr18:13884626A>T	ENST00000327606.3	-	2	1072	c.892T>A	c.(892-894)Tag>Aag	p.*298K		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGCCATTCTACCAGTACCTG	0.483000													26	60					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132400455	132400455	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:132400455C>G	ENST00000277458.4	-	6	1045	c.880G>C	c.(880-882)Gcg>Ccg	p.A294P	ASB6_ENST00000450050.2_Missense_Mutation_p.A215P|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	294					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAGCAGGACGCACCGTGCAGG	0.597000													7	34					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31483736	31483736	+	Splice_Site	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:31483736C>A	ENST00000511367.2	-	15	2241		c.e15-1		DROSHA_ENST00000442743.1_Splice_Site|DROSHA_ENST00000513349.1_Splice_Site|DROSHA_ENST00000344624.3_Splice_Site	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III						gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AACAAAGGACCTGAAGCAAAC	0.353000													13	23					2.27111e-07	2.58724e-07	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856748	62856748	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:62856748C>A	ENST00000584306.1	-	11	4046	c.3516G>T	c.(3514-3516)agG>agT	p.R1172S	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R149S|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1172S|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R290S|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R210S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1172						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTGGATGCTCCTTGGGCCCA	0.507000													7	161					0.0381472	0.0387705	1	1	0
GNL3L	54552	broad.mit.edu	37	X	54581096	54581096	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:54581096G>A	ENST00000336470.4	+	14	1556	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	GNL3L_ENST00000360845.2_Missense_Mutation_p.A473T	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	473					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AATAGCAGATGCCATTGAAAA	0.483000													8	37					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197368	71197368	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:71197368G>C	ENST00000299886.4	+	7	1482	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	468					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CATCCACTTTGAGTACAACAT	0.527000													6	163					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16068218	16068218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:16068218G>C	ENST00000352083.6	-	12	1542	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	SOX6_ENST00000527619.1_Missense_Mutation_p.L465V|SOX6_ENST00000528429.1_Missense_Mutation_p.L489V|SOX6_ENST00000396356.3_Missense_Mutation_p.L489V|SOX6_ENST00000528252.1_Missense_Mutation_p.L462V|SOX6_ENST00000316399.6_Missense_Mutation_p.L489V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	489					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCCCCAAAAAGGGCAGGGGAG	0.493000													25	40					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26212050	26212050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:26212050G>T	ENST00000380737.3	+	4	576	c.247G>T	c.(247-249)Gag>Tag	p.E83*	PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.E93*	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CCATGAACCAGAGTTTGACTA	0.343000													28	63					3.65163e-15	4.56087e-15	1	1	0
BCAS1	8537	broad.mit.edu	37	20	52645178	52645178	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:52645178G>T	ENST00000395961.3	-	4	642	c.476C>A	c.(475-477)gCc>gAc	p.A159D	BCAS1_ENST00000411563.1_Missense_Mutation_p.A62D|BCAS1_ENST00000371435.2_Missense_Mutation_p.A159D|BCAS1_ENST00000371440.3_Missense_Mutation_p.A159D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	159						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTGTCTTGGGCCGGGGCGTG	0.622000													23	51					2.89027e-11	3.4572e-11	1	1	0
MRS2	57380	broad.mit.edu	37	6	24412543	24412543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:24412543C>T	ENST00000378386.3	+	5	601	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q170*|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q173*|MRS2_ENST00000535061.1_Nonsense_Mutation_p.Q120*|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	170					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						ACTCCCTTCACAGTTGTCTGG	0.383000													32	67					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799269	20799269	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:20799269G>A	ENST00000327925.5	-	1	184	c.65C>T	c.(64-66)gCc>gTc	p.A22V	RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	22										large_intestine(3)|lung(3)|skin(1)	7						CTTCCTCGTGGCGTAGACTGC	0.642000											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356267	70356267	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:70356267A>T	ENST00000333646.6	+	37	5361	c.5162A>T	c.(5161-5163)cAg>cTg	p.Q1721L	MED12_ENST00000374080.3_Missense_Mutation_p.Q1721L|MED12_ENST00000374102.1_Missense_Mutation_p.Q1721L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1721	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAGGAGCAGCAGCGGTTGCTG	0.632000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	17					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269611	150269611	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:150269611C>T	ENST00000255945.2	+	3	628	c.453C>T	c.(451-453)ctC>ctT	p.L151L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.L165L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	151							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATGATTCTCATATTCACCC	0.453000													5	79					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154147	22154147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:22154147C>A	ENST00000397126.4	-	4	3837	c.3689G>T	c.(3688-3690)tGt>tTt	p.C1230F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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)				GGCTTTGCCACATTCTTCACA	0.398000													16	51					0.00400662	0.0042383	1	1	0
FUT2	2524	broad.mit.edu	37	19	49206803	49206803	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:49206803G>C	ENST00000425340.2	+	2	707	c.590G>C	c.(589-591)gGg>gCg	p.G197A	FUT2_ENST00000391876.4_Missense_Mutation_p.G197A	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	197					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACCTTTGTAGGGGTCCATGTT	0.642000													5	48					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117593	84117593	+	Nonsense_Mutation	SNP	G	G	A	rs142465619		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:84117593G>A	ENST00000369705.3	-	2	222	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	36					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCAATTGCTGTCTCTCTTCC	0.383000													36	92					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031935	26031935	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:26031935C>T	ENST00000244661.2	-	1	353	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	118					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCATAATAGTCACTCGCTTAG	0.512000													4	59					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171236778	171236778	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:171236778G>C	ENST00000354841.4	+	2	360	c.229G>C	c.(229-231)Gat>Cat	p.D77H	FMO1_ENST00000367750.3_Missense_Mutation_p.D77H|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Intron			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	77					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCCCAGAAGATTATCCAAA	0.403000													6	145					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15466854	15466854	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:15466854G>C	ENST00000380733.4	-	15	1767	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S475*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	475					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAGAGTCTTTGACCCTTGCGA	0.413000													5	47					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129058938	129058938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:129058938G>A	ENST00000394422.3	+	12	1544	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	UTP14A_ENST00000371042.3_Missense_Mutation_p.E338K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E454K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E452K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	506					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACAGAGACCAGAGAGAGTACA	0.507000													7	135					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648189	130648189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:130648189G>A	ENST00000229030.4	+	1	1186	c.702G>A	c.(700-702)tgG>tgA	p.W234*	FZD10_ENST00000539839.1_Missense_Mutation_p.G202S			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	234					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)		TGGCCATCTGGGCGGTGCTGT	0.672000													16	52					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58444979	58444979	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:58444979C>A	ENST00000357552.3	-	36	3840	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L	SYCP2_ENST00000371001.2_Silent_p.L1205L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1205					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTGTAAGTACCAGAGAACTTA	0.318000													6	31					0.00116845	0.00124875	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42532724	42532724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr18:42532724C>G	ENST00000282030.5	+	4	3715	c.3419C>G	c.(3418-3420)gCc>gGc	p.A1140G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1140						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTAGGCAGTGCCAGTCTGTCC	0.532000									Schinzel-Giedion syndrome				11	44					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493922	55493922	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:55493922G>A	ENST00000543010.1	+	6	999	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	NLRP2_ENST00000538819.1_Missense_Mutation_p.V262M|NLRP2_ENST00000448584.2_Missense_Mutation_p.V286M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V263M|NLRP2_ENST00000391721.4_Missense_Mutation_p.V262M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V283M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V264M|NLRP2_ENST00000537859.1_Missense_Mutation_p.V264M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	286	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AATCTTGTTCGTGATTGACGG	0.592000													9	66					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101522	58101522	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:58101522C>T	ENST00000597850.1	+	4	558	c.343C>T	c.(343-345)Cta>Tta	p.L115L	ZIK1_ENST00000536878.2_Silent_p.L102L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.L60L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	115	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATTTTGCATCTAGCTGATCT	0.458000													6	96					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160084420	160084420	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:160084420A>G	ENST00000263635.6	+	25	4231	c.3994A>G	c.(3994-3996)Aat>Gat	p.N1332D	TANC1_ENST00000454300.1_Missense_Mutation_p.N1226D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1332						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGACCCTTCAATGAATTAAG	0.448000													8	57					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431681	117431681	+	Silent	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:117431681T>A	ENST00000160373.3	-	4	1660	c.1569A>T	c.(1567-1569)ccA>ccT	p.P523P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	523	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCCGACCAACTGGAGGGTGGG	0.537000													24	98					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837619	82837619	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:82837619C>A	ENST00000265077.3	+	8	9362	c.8797C>A	c.(8797-8799)Caa>Aaa	p.Q2933K	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Q1946K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2933	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCAAGATTTCCAAAACAAAAC	0.403000													50	163					8.72198e-27	1.13495e-26	1	1	0
ABCG1	9619	broad.mit.edu	37	21	43716393	43716393	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr21:43716393T>C	ENST00000398437.1	+	16	2514	c.2366T>C	c.(2365-2367)gTg>gCg	p.V789A	ABCG1_ENST00000340588.4_Missense_Mutation_p.V751A|ABCG1_ENST00000361802.2_Missense_Mutation_p.V643A|ABCG1_ENST00000343687.3_Missense_Mutation_p.V642A|ABCG1_ENST00000398449.3_Missense_Mutation_p.V631A|ABCG1_ENST00000398457.2_Missense_Mutation_p.V633A|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.V628A			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	643					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGCTGGACGTGGAAAATGCC	0.532000													32	49					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465754	10465754	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:10465754C>A	ENST00000382483.3	-	4	6077	c.5854G>T	c.(5854-5856)Ggg>Tgg	p.G1952W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1952					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)		TGGGTCTGCCCTTCTGCCTCC	0.587000													28	108					1.4709e-25	1.90604e-25	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35659161	35659161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:35659161G>C	ENST00000440995.2	+	8	1019	c.1019G>C	c.(1018-1020)cGg>cCg	p.R340P	SPEF2_ENST00000356031.3_Missense_Mutation_p.R340P|SPEF2_ENST00000282469.6_Missense_Mutation_p.R340P|SPEF2_ENST00000509059.1_Missense_Mutation_p.R340P			Q9C093	SPEF2_HUMAN	sperm flagellar 2	340					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGCTGATGCGGCAGTCCCAG	0.473000													19	30					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519268	43519268	+	Splice_Site	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:43519268C>A	ENST00000401740.1	-	4	1067	c.964_splice	c.e4+1	p.A322_splice	PSG11_ENST00000403486.1_Splice_Site_p.A200_splice|PSG11_ENST00000306322.7_Splice_Site_p.A200_splice|PSG11_ENST00000320078.7_Splice_Site_p.A322_splice			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	322					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCCACTTACCAATGACTCTG	0.473000													32	136					1.62565e-12	1.98265e-12	1	1	0
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449	byFrequency	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473000													41	289					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009128	61009128	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:61009128G>A	ENST00000238714.3	+	11	1264	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	339					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.E339K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AATGGTAGAAGAATTTAAACA	0.403000													7	99					0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71493198	71493198	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:71493198T>C	ENST00000316084.6	-	6	678	c.574A>G	c.(574-576)Att>Gtt	p.I192V	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	192					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					ATCACACCAATTCTTCCTAGG	0.458000													8	19					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36075403	36075403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:36075403G>A	ENST00000303965.4	-	32	5140	c.4651C>T	c.(4651-4653)Cgt>Tgt	p.R1551C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1551					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTATTGAACGTTTTCGTTCC	0.398000													13	61					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12127155	12127155	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:12127155C>T	ENST00000419886.2	-	5	713	c.422G>A	c.(421-423)gGa>gAa	p.G141E	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.G176E|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AAATGTTTTTCCGCATTCCTC	0.378000													8	85					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792317	143792317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:143792317G>T	ENST00000408949.2	+	1	177	c.117G>T	c.(115-117)atG>atT	p.M39I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TAACCCTGATGGGAAATGGGA	0.493000													5	95					4.096e-09	4.78893e-09	1	1	0
ZNF433	163059	broad.mit.edu	37	19	12127056	12127056	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:12127056A>G	ENST00000419886.2	-	5	812	c.521T>C	c.(520-522)tTt>tCt	p.F174S	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.F209S|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CAAACTGAGAAACATCAAGGC	0.383000													17	63					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158268	106158268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:106158268G>T	ENST00000513237.1	+	3	4029	c.3232G>T	c.(3232-3234)Gaa>Taa	p.E1078*	TET2_ENST00000413648.2_Nonsense_Mutation_p.E1057*|TET2_ENST00000305737.2_Nonsense_Mutation_p.E1057*|TET2_ENST00000394764.1_Nonsense_Mutation_p.E1057*|TET2_ENST00000380013.4_Nonsense_Mutation_p.E1057*|TET2_ENST00000545826.1_Nonsense_Mutation_p.E1057*|TET2_ENST00000540549.1_Nonsense_Mutation_p.E1057*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1057					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTAAAAGTTGAAATGTCAGG	0.438000			"""Mis N, F"""		MDS								20	52					3.51602e-12	4.27141e-12	1	1	0
UCHL1	7345	broad.mit.edu	37	4	41258998	41258998	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:41258998A>T	ENST00000284440.4	+	1	149	c.5A>T	c.(4-6)cAg>cTg	p.Q2L	UCHL1_ENST00000503431.1_Missense_Mutation_p.Q2L|UCHL1_ENST00000508768.1_Missense_Mutation_p.Q2L|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.Q2L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	2					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GCGAAGATGCAGCTCAAGCCG	0.652000													11	29					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275358	113275358	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:113275358G>A	ENST00000401783.2	-	5	1487	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P361L|SVEP1_ENST00000302728.8_Missense_Mutation_p.P384L|SVEP1_ENST00000374461.1_Missense_Mutation_p.P361L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	384	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCATTTTCGGGAGGCTTCAG	0.408000													17	30					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	33					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209907741	209907741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:209907741C>T	ENST00000367028.2	+	7	923	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	HSD11B1_ENST00000367027.3_Missense_Mutation_p.R252C|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R252C	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	252					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGAGCTCTGCGCCAAGAAGA	0.463000													13	115					0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99160598	99160598	+	Splice_Site	SNP	T	T	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:99160598T>G	ENST00000375256.4	-	2	717		c.e2-2			NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367						regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GATTCCATCCTGTTGataatt	0.358000													38	75					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660510	141660510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:141660510C>A	ENST00000389484.3	-	23	4716	c.3745G>T	c.(3745-3747)Ggt>Tgt	p.G1249C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1249					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)		CAACTTTCACCGTCTACATCC	0.378000										TSP Lung(27;0.18)			16	51					1.15088e-07	1.32564e-07	1	1	0
PKD2L1	9033	broad.mit.edu	37	10	102059380	102059380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:102059380G>A	ENST00000318222.3	-	3	827	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q149*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.Q149*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	149					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGATGGCCTGAAAGGAGACT	0.483000													7	56					0	0	1	0	0
FIGLA	344018	broad.mit.edu	37	2	71012648	71012648	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:71012648C>G	ENST00000332372.6	-	3	512	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	170					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						GGCCCTTCCTCTTCATTCTTC	0.488000													10	237					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349336	58349336	+	Missense_Mutation	SNP	G	G	A	rs143127476	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:58349336G>A	ENST00000371015.1	+	7	1432	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	PHACTR3_ENST00000541461.1_Missense_Mutation_p.R281Q|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R211Q|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R319Q|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R211Q|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R281Q|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R281Q	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	322						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAAGAAGCGGCTGGATGTC	0.537000													13	32					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	361500	361500	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:361500T>A	ENST00000256509.2	+	3	683	c.41T>A	c.(40-42)cTa>cAa	p.L14Q	CHL1_ENST00000397491.2_Missense_Mutation_p.L14Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	14					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCGTATATCTAATGTTCCTC	0.348000													5	12					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509156	228509156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:228509156A>G	ENST00000570156.2	+	66	17559	c.17485A>G	c.(17485-17487)Atg>Gtg	p.M5829V	OBSCN_ENST00000366707.4_Missense_Mutation_p.M2506V|OBSCN_ENST00000366709.4_Missense_Mutation_p.M1991V|OBSCN_ENST00000284548.11_Missense_Mutation_p.M4872V|OBSCN_ENST00000422127.1_Missense_Mutation_p.M4872V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4872	DH.				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)				TGATCCCTCAATGGACAAGGC	0.592000													5	20					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97937197	97937197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:97937197C>G	ENST00000005260.8	-	10	1182	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	323					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AAACTGGGATCTTCGGAAGTA	0.483000													5	73					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085786	55085786	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:55085786C>T	ENST00000251377.3	+	4	222	c.89C>T	c.(88-90)aCc>aTc	p.T30I	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.T18I|LILRA2_ENST00000391738.3_Missense_Mutation_p.T30I|LILRA2_ENST00000251376.3_Missense_Mutation_p.T30I|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCAAGCCCACCCTCTGGGCT	0.567000													28	75					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598492	141598492	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:141598492G>T	ENST00000389484.3	-	30	6080	c.5109C>A	c.(5107-5109)gtC>gtA	p.V1703V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1703					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)		TTTACCCCCTGACTGGGTGAG	0.343000										TSP Lung(27;0.18)			14	48					0.00185496	0.00197566	1	1	0
PTPRG	5793	broad.mit.edu	37	3	62257082	62257082	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:62257082C>T	ENST00000474889.1	+	21	3411	c.3034C>T	c.(3034-3036)Cgt>Tgt	p.R1012C	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983C|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1012	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCCCAAGGGTCGTCAGAATGA	0.468000													4	38					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482735	23482735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:23482735G>T	ENST00000376504.3	+	2	1091	c.887G>T	c.(886-888)cGa>cTa	p.R296L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	296					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AATATTATCCGAACAGCCAAA	0.483000													35	90					2.20262e-25	2.84239e-25	1	1	0
CLCN3	1182	broad.mit.edu	37	4	170610358	170610358	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:170610358G>A	ENST00000513761.1	+	5	1142	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	CLCN3_ENST00000360642.3_Missense_Mutation_p.E195K|CLCN3_ENST00000504131.2_Missense_Mutation_p.E178K|CLCN3_ENST00000347613.4_Missense_Mutation_p.E195K	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	195					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AACATGGGCAGAATTAATCAT	0.363000													4	64					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74548863	74548863	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:74548863A>T	ENST00000263665.6	-	2	156	c.129T>A	c.(127-129)gaT>gaA	p.D43E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	43	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTATTTTTTTATCTTCTGAAC	0.363000													15	45					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42613791	42613791	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr21:42613791G>T	ENST00000330333.6	+	4	1127	c.664G>T	c.(664-666)Gca>Tca	p.A222S	BACE2_ENST00000328735.6_Missense_Mutation_p.A222S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.A222S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	222					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGTGACACAAGCAAACATCCC	0.557000													49	104					2.56175e-15	3.21251e-15	1	1	0
SAMD7	344658	broad.mit.edu	37	3	169644898	169644898	+	Missense_Mutation	SNP	C	C	T	rs145475205	byFrequency	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:169644898C>T	ENST00000428432.2	+	6	1237	c.848C>T	c.(847-849)tCg>tTg	p.S283L	SAMD7_ENST00000335556.3_Missense_Mutation_p.S283L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	283										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAGGAGGCTTCGGAGCAGATT	0.567000													20	31					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66551756	66551756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:66551756C>T	ENST00000592554.1	-	2	1255	c.533G>A	c.(532-534)aGc>aAc	p.S178N	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	178						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GACAACAGGGCTGGACCGGGA	0.577000													15	69					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141260627	141260627	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:141260627C>G	ENST00000389484.3	-	54	9538	c.8567G>C	c.(8566-8568)cGg>cCg	p.R2856P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2856	LDL-receptor class A 19.				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)		TAGAAGACACCGCCCATCAGC	0.393000										TSP Lung(27;0.18)			17	62					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12200289	12200289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:12200289G>T	ENST00000287814.4	-	1	562	c.52C>A	c.(52-54)Ctg>Atg	p.L18M	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	18							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGCAACGCCAGCAGCCGCAGC	0.701000													3	27					6.4e-05	7.03322e-05	1	1	0
CEP63	80254	broad.mit.edu	37	3	134270781	134270781	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:134270781A>T	ENST00000337090.3	+	12	1567	c.1394A>T	c.(1393-1395)cAg>cTg	p.Q465L	CEP63_ENST00000383229.3_Missense_Mutation_p.Q465L|CEP63_ENST00000354446.3_Missense_Mutation_p.Q419L|CEP63_ENST00000332047.5_Missense_Mutation_p.Q419L|CEP63_ENST00000606977.1_Missense_Mutation_p.Q465L|CEP63_ENST00000513612.2_Missense_Mutation_p.Q465L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	465					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTTTGGATCAGCTGGAGTCA	0.308000													9	71					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130305502	130305502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:130305502C>A	ENST00000358511.6	+	10	4154	c.4123C>A	c.(4123-4125)Ctg>Atg	p.L1375M	COL6A6_ENST00000453409.2_Missense_Mutation_p.L1375M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1375	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCAAAGCAGCTGGTAAGTTA	0.358000													12	37					2.80697e-09	3.29422e-09	1	1	0
LARP4B	23185	broad.mit.edu	37	10	858924	858924	+	Missense_Mutation	SNP	G	G	A	rs113572102	byFrequency	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:858924G>A	ENST00000316157.3	-	17	2199	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	720							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCCCATGGCCGAGGGCGAggg	0.687000													3	41					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4873763	4873763	+	Silent	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:4873763G>A	ENST00000361571.5	-	16	3285	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	CAMTA2_ENST00000348066.3_Silent_p.F959F|CAMTA2_ENST00000381311.5_Silent_p.F961F|CAMTA2_ENST00000358183.4_Silent_p.F959F|CAMTA2_ENST00000414043.3_Silent_p.F982F|CAMTA2_ENST00000572543.1_Silent_p.F964F	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	959					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGCCCCACGAAGTCCTCTC	0.592000													7	89					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117383217	117383217	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:117383217A>G	ENST00000455858.2	+	3	347	c.274A>G	c.(274-276)Agg>Ggg	p.R92G	FBXW8_ENST00000309909.5_Missense_Mutation_p.R158G	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	158							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCTGTGGTACAGGCTGTGCCA	0.502000													17	32					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855124	65855124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:65855124C>T	ENST00000395325.3	+	10	1365	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	DNAJC6_ENST00000371069.4_Missense_Mutation_p.A460V|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A390V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	403					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GATACGCTGGCCTTAGGAGGT	0.413000													20	60					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66773167	66773167	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:66773167C>T	ENST00000359742.4	-	20	2754	c.2514G>A	c.(2512-2514)agG>agA	p.R838R	GRIP1_ENST00000398016.3_Silent_p.R786R|GRIP1_ENST00000286445.7_Silent_p.R838R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	838					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTTTGGACTCCTCCAGTCAT	0.478000													8	184					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149589043	149589043	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:149589043G>T	ENST00000230671.2	+	14	2147	c.1776G>T	c.(1774-1776)gtG>gtT	p.V592V	SLC6A7_ENST00000524041.1_Silent_p.V592V	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	592						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCATGTATGTGGCCACGCTGG	0.637000													16	32					1.15088e-07	1.32564e-07	1	1	0
C6orf120	387263	broad.mit.edu	37	6	170103009	170103009	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:170103009G>A	ENST00000332290.2	+	1	753	c.454G>A	c.(454-456)Gac>Aac	p.D152N	C6orf120_ENST00000439249.1_Missense_Mutation_p.D171N	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	152						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CTACCCCGCCGACGGCGCAGA	0.602000													12	4					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80993233	80993233	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr14:80993233A>G	ENST00000555265.1	-	23	3427	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	CEP128_ENST00000281129.3_Missense_Mutation_p.Y1018H|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1018						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGGTTCTGTACTTGGTGTCA	0.373000													21	27					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68701297	68701297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:68701297G>T	ENST00000255078.3	+	10	1564	c.1453G>T	c.(1453-1455)Ggt>Tgt	p.G485C	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	485					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAAGAGACGGGTGTGCCCCT	0.642000													3	9					0.115264	0.116387	1	1	0
DOK6	220164	broad.mit.edu	37	18	67266634	67266634	+	Silent	SNP	C	C	T	rs138734623		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr18:67266634C>T	ENST00000382713.5	+	3	379	c.189C>T	c.(187-189)caC>caT	p.H63H	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	63	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGAACTGCACAATATCAAAA	0.373000													3	34					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40993635	40993635	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:40993635C>T	ENST00000352632.3	+	3	287	c.201C>T	c.(199-201)ttC>ttT	p.F67F	SPTBN4_ENST00000344104.3_Silent_p.F67F|SPTBN4_ENST00000598249.1_Silent_p.F67F|SPTBN4_ENST00000595535.1_Silent_p.F67F|SPTBN4_ENST00000338932.3_Silent_p.F67F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	67	Actin-binding.|CH 1.				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)			AGAAAACCTTCACCAAGTGGG	0.657000													5	41					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419617	56419617	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:56419617C>T	ENST00000407595.2	+	2	784	c.282C>T	c.(280-282)atC>atT	p.I94I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	94										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCAGGATATCAACCAGAAAC	0.512000													4	64					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896274	77896274	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr8:77896274C>A	ENST00000419564.2	-	4	605	c.141G>T	c.(139-141)ggG>ggT	p.G47G	PEX2_ENST00000520103.1_Silent_p.G47G|PEX2_ENST00000357039.4_Silent_p.G47G|PEX2_ENST00000522527.1_Silent_p.G47G	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	47					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GAGCTAACAGCCCAGGTTTAA	0.463000													21	33					1.96292e-10	2.33003e-10	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683193	140683193	+	Silent	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:140683193G>C	ENST00000239451.4	-	1	419	c.240C>G	c.(238-240)gtC>gtG	p.V80V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	80					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACATGAAGAGGACCGAGTTTT	0.587000													12	86					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561523	9561523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:9561523C>G	ENST00000378429.3	-	5	805	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	PAK7_ENST00000378423.1_Missense_Mutation_p.E87Q|PAK7_ENST00000353224.5_Missense_Mutation_p.E87Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	87	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCAAAATCCTCTAGCAGGCCG	0.493000													5	88					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47044700	47044700	+	Splice_Site	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:47044700G>A	ENST00000377604.3	+	19	2842		c.e19-1		RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTCCACCCCAGGGAGCACTAG	0.627000													12	9					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11318596	11318596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:11318596C>G	ENST00000361445.4	-	3	293	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	73					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GAAACCAATTCAAAAATGTGA	0.403000													4	72					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105280922	105280922	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:105280922T>A	ENST00000262903.4	-	6	805	c.529A>T	c.(529-531)Aag>Tag	p.K177*	HACE1_ENST00000369125.2_Nonsense_Mutation_p.K177*|RP11-809N15.2_ENST00000422930.1_RNA	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	177					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTACCGTCTTGTGACCGTTC	0.428000													6	53					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	18					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154275708	154275708	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:154275708G>T	ENST00000285873.7	-	24	3616	c.3541C>A	c.(3541-3543)Cag>Aag	p.Q1181K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1181					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGCTTCTGAAAGGCTTCC	0.498000													7	128					0.0293803	0.0299583	1	1	0
LMO2	4005	broad.mit.edu	37	11	33881009	33881009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:33881009C>A	ENST00000257818.2	-	6	1406	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S	LMO2_ENST00000395833.3_Missense_Mutation_p.A124S	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	124					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTCTGACAGGCGGCGCATTTG	0.483000			T	TRD@	T-ALL								16	39					1.3612e-06	1.5394e-06	1	1	0
BAAT	570	broad.mit.edu	37	9	104125206	104125206	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:104125206G>A	ENST00000259407.2	-	4	869	c.761C>T	c.(760-762)aCg>aTg	p.T254M	BAAT_ENST00000395051.3_Missense_Mutation_p.T254M	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	254					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AATAAGTACCGTGGCTGTGAC	0.443000													8	72					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895531	24895531	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr13:24895531G>T	ENST00000382071.2	+	4	712	c.627G>T	c.(625-627)acG>acT	p.T209T	AL359736.1_ENST00000422229.2_Silent_p.T12T|C1QTNF9_ENST00000332018.4_Silent_p.T209T|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	209	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TGGGGCTCACGGTGCTGAGCA	0.453000													30	46					2.08457e-15	2.63537e-15	1	1	0
EIF5B	9669	broad.mit.edu	37	2	99995584	99995584	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:99995584G>C	ENST00000289371.5	+	11	2147	c.1945G>C	c.(1945-1947)Gat>Cat	p.D649H		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	649					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAAATTCTAGATAAGGTAAG	0.338000													3	18					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47076513	47076513	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:47076513C>T	ENST00000290341.3	+	2	552	c.218C>T	c.(217-219)tCg>tTg	p.S73L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.S73L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	73	RRM 1.				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						ATTGAACATTCGGTGCCCAAA	0.488000													6	47					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220697	55220697	+	RNA	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:55220697C>A	ENST00000413439.1	+	0	808																											GGGTCCCAGCCCCAGGCTCTG	0.612000													8	16					0.000157383	0.000171741	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39909404	39909404	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:39909404C>A	ENST00000425673.1	+	10	1439	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	PLEKHG2_ENST00000378550.1_Silent_p.R372R|PLEKHG2_ENST00000409794.3_Silent_p.R372R|PLEKHG2_ENST00000409797.2_Silent_p.R372R|PLEKHG2_ENST00000458508.2_Silent_p.R313R			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	372	PH.				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)			CGAGAGTCCCCGAGACCCTCT	0.587000													18	262					2.35188e-11	2.83502e-11	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935940	30935940	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:30935940T>A	ENST00000355537.3	+	2	1618	c.1471T>A	c.(1471-1473)Tgc>Agc	p.C491S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCCTGGGATGCCTCAATCT	0.652000													7	58					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551654	248551654	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:248551654A>T	ENST00000355728.2	+	1	745	c.745A>T	c.(745-747)Aca>Tca	p.T249S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGGTGGTGACATTGTTCTA	0.483000													53	78					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915665	20915665	+	Missense_Mutation	SNP	G	G	T	rs138643254		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:20915665G>T	ENST00000375071.3	+	1	225	c.43G>T	c.(43-45)Gtc>Ttc	p.V15F	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	15					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GCCTGAGTGTGTCCAGCAGCT	0.652000													12	32					2.27111e-07	2.58724e-07	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101832054	101832054	+	Silent	SNP	A	A	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:101832054A>G	ENST00000375001.3	+	42	4476	c.4053A>G	c.(4051-4053)ggA>ggG	p.G1351G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1351	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CGGTCACGGGACTTGCCTCCC	0.552000													23	48					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72407648	72407648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:72407648C>A	ENST00000359373.5	-	23	4069	c.3218G>T	c.(3217-3219)cGg>cTg	p.R1073L	ARAP1_ENST00000393605.3_Missense_Mutation_p.R833L|ARAP1_ENST00000426523.1_Missense_Mutation_p.R828L|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1073L|ARAP1_ENST00000334211.8_Missense_Mutation_p.R828L|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1073L|ARAP1_ENST00000429686.1_Missense_Mutation_p.R767L|ARAP1_ENST00000495878.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1073	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGGGGCAGCCGCACCAGCAG	0.557000													9	44					3.86212e-05	4.27445e-05	1	1	0
MAP2	4133	broad.mit.edu	37	2	210558621	210558621	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:210558621C>G	ENST00000360351.4	+	7	2233	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	MAP2_ENST00000447185.1_Missense_Mutation_p.S572C|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	576					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTGAAACATCTGCCTTGAAA	0.393000													7	99					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108009	35108009	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:35108009C>T	ENST00000378561.1	-	2	3318	c.263G>A	c.(262-264)aGa>aAa	p.R88K	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Missense_Mutation_p.R88K|FAM214B_ENST00000378554.2_Missense_Mutation_p.R88K|FAM214B_ENST00000322813.5_Missense_Mutation_p.R88K|FAM214B_ENST00000488109.2_Missense_Mutation_p.R88K|FAM214B_ENST00000605244.1_Missense_Mutation_p.R88K|FAM214B_ENST00000378557.1_Missense_Mutation_p.R88K			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	88						nucleus											TAGTCCCTCTCTGGCCCCCAG	0.647000													5	45					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161988	151161988	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:151161988C>G	ENST00000367328.1	+	17	4426	c.4114C>G	c.(4114-4116)Cta>Gta	p.L1372V	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.L1372V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1372					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGTCCAGTCTCTAAGGGAAAA	0.373000													4	83					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169144456	169144456	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:169144456C>A	ENST00000256935.8	+	21	2180	c.2100C>A	c.(2098-2100)atC>atA	p.I700I	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.I192I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	700					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCTTACATCCAACAGCATT	0.468000													33	95					1.45844e-13	1.79989e-13	1	1	0
CACNB2	783	broad.mit.edu	37	10	18803185	18803185	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:18803185G>A	ENST00000396576.2	+	6	1027	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.G177S|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.G183S|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.G231S|CACNB2_ENST00000282343.8_Missense_Mutation_p.G203S	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	231	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGCTACTGGCTTAGATGC	0.383000													11	51					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42270109	42270109	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:42270109C>T	ENST00000199764.6	+	5	1195	c.977C>T	c.(976-978)tCa>tTa	p.S326L	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	326					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCTGTCCTCTCAGCTGTGGCC	0.512000													4	83					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5692104	5692104	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:5692104C>T	ENST00000360614.3	-	18	2976	c.2819G>A	c.(2818-2820)cGg>cAg	p.R940Q	LONP1_ENST00000593119.1_Missense_Mutation_p.R876Q|LONP1_ENST00000540670.2_Missense_Mutation_p.R744Q|LONP1_ENST00000585374.1_Missense_Mutation_p.R826Q|LONP1_ENST00000590729.1_Missense_Mutation_p.R810Q	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	940					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.R940L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGATCTCCCGGTAGTGTTC	0.647000													20	90					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235897896	235897896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:235897896C>T	ENST00000389794.3	-	32	8596	c.8422G>A	c.(8422-8424)Gaa>Aaa	p.E2808K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E2808K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2808					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGCTCTTCTTCAGTCAATTCA	0.358000													24	72					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27224742	27224742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:27224742G>T	ENST00000006015.3	-	1	93	c.22C>A	c.(22-24)Ccc>Acc	p.P8T	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	8					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GAGGAGCAGGGACCACGCTCA	0.527000			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	47					1.52009e-12	1.86121e-12	1	1	0
PCNP	57092	broad.mit.edu	37	3	101309083	101309083	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:101309083G>A	ENST00000265260.3	+	4	500	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PCNP_ENST00000296024.5_Intron|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000469941.1_Missense_Mutation_p.E4K	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	127					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						AATGCCTCCAGAAGCAAAGAT	0.289000													3	17					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220696	55220696	+	RNA	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:55220696C>A	ENST00000413439.1	+	0	808																											GGGGTCCCAGCCCCAGGCTCT	0.612000													8	16					0.000157383	0.000171741	1	1	0
STK26	51765	broad.mit.edu	37	X	131188767	131188767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:131188767G>T	ENST00000394334.2	+	3	404	c.151G>T	c.(151-153)Gct>Tct	p.A51S	MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Missense_Mutation_p.A51S|MST4_ENST00000481105.1_Missense_Mutation_p.A51S|MST4_ENST00000354719.6_Missense_Mutation_p.A51S	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		51	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCGTTGCTATTAAAAT	0.393000													4	65					0.00909568	0.00933583	1	1	0
HEXA	3073	broad.mit.edu	37	15	72640064	72640064	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr15:72640064T>C	ENST00000268097.5	-	10	1612	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000566304.1_Missense_Mutation_p.Y381C|HEXA_ENST00000567159.1_Missense_Mutation_p.Y370C|HEXA_ENST00000429918.2_Missense_Mutation_p.Y197C|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	370					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCACACCACATAGCCCTTGCC	0.532000													12	32					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826317	102826317	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:102826317C>G	ENST00000260302.3	-	1	146	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	MMP13_ENST00000340273.4_Missense_Mutation_p.E40Q	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	40					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTCTACCTCTGCAAACTGG	0.488000													15	94					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35670235	35670235	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:35670235C>G	ENST00000440995.2	+	10	1430	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C	SPEF2_ENST00000356031.3_Missense_Mutation_p.S477C|SPEF2_ENST00000282469.6_Missense_Mutation_p.S477C|SPEF2_ENST00000509059.1_Missense_Mutation_p.S477C			Q9C093	SPEF2_HUMAN	sperm flagellar 2	477					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACAAGCCTCTGTTAAGACA	0.368000													35	146					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341612	39341612	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:39341612G>C	ENST00000454994.2	-	2	435	c.159C>G	c.(157-159)atC>atG	p.I53M	GJA9_ENST00000360786.3_Missense_Mutation_p.I53M|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.I53M			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	53					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTGTATTGCAGATGAAGCCAG	0.453000													70	134					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9900370	9900370	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:9900370C>T	ENST00000380913.3	+	6	3137	c.3047C>T	c.(3046-3048)cCt>cTt	p.P1016L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1016					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGAACCCTACCTCGAGATTAT	0.642000													8	20					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48533651	48533651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:48533651G>T	ENST00000340802.6	+	15	1584	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	PFKM_ENST00000551804.1_Nonsense_Mutation_p.E352*|PFKM_ENST00000312352.7_Nonsense_Mutation_p.E383*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.E383*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.E352*|PFKM_ENST00000359794.5_Nonsense_Mutation_p.E383*	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	383					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAACAACTGGGAGGTGTACAA	0.527000													10	22					7.03913e-09	8.19913e-09	1	1	0
ALS2	57679	broad.mit.edu	37	2	202571685	202571685	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:202571685C>A	ENST00000264276.6	-	29	4836	c.4464G>T	c.(4462-4464)ccG>ccT	p.P1488P	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1488					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCATAAACAGCGGTGGGTAGA	0.433000													14	48					1.05317e-09	1.24067e-09	1	1	0
TPK1	27010	broad.mit.edu	37	7	144245656	144245656	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:144245656C>G	ENST00000549981.1	-	10	913	c.190G>C	c.(190-192)Gat>Cat	p.D64H	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.D132H|TPK1_ENST00000360057.3_Missense_Mutation_p.D181H|TPK1_ENST00000538212.2_Missense_Mutation_p.D127H			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	181					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CCACACCAATCACCCTCCATT	0.448000													12	45					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129742798	129742798	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:129742798C>A	ENST00000446488.3	-	22	2847	c.2744G>T	c.(2743-2745)gGa>gTa	p.G915V	NFRKB_ENST00000304521.5_Missense_Mutation_p.G915V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G940V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G915V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	915					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGTTCTGTCCTGTGACATT	0.582000													5	78					5.9392e-07	6.74121e-07	1	1	0
KIF1A	547	broad.mit.edu	37	2	241658550	241658550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:241658550C>A	ENST00000498729.2	-	47	5333	c.5087G>T	c.(5086-5088)cGc>cTc	p.R1696L	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1595L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1595					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCACGAAGCGCCTGGCCCA	0.642000													17	63					1.99824e-07	2.29318e-07	1	1	0
TTC16	158248	broad.mit.edu	37	9	130478436	130478436	+	Silent	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:130478436G>C	ENST00000373289.3	+	1	92	c.12G>C	c.(10-12)tcG>tcC	p.S4S	PTRH1_ENST00000429848.1_5'UTR|PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	4							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGACAGATTCGGACGAGGTGC	0.652000													5	64					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566686	42566686	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:42566686C>G	ENST00000262895.3	-	4	461	c.462G>C	c.(460-462)aaG>aaC	p.K154N	GRIK5_ENST00000593562.1_Missense_Mutation_p.K154N|GRIK5_ENST00000301218.4_Missense_Mutation_p.K154N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	154						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGTTGAAGGACTTGAGGATTC	0.582000													7	61					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175883	143175883	+	Silent	SNP	G	G	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr7:143175883G>T	ENST00000408916.1	+	1	918	c.918G>T	c.(916-918)gtG>gtT	p.V306V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	306					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCTTCTGGGTGGCCTAGATGG	0.522000													3	19					1	1	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312857	153312857	+	Splice_Site	SNP	T	T	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:153312857T>A	ENST00000368739.3	-	7	1170	c.812_splice	c.e7+1	p.N271_splice	PGLYRP4_ENST00000359650.5_Splice_Site_p.N275_splice			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	275					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCACTCACTTATAACCAAT	0.512000													49	61					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139404312	139404312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr9:139404312C>T	ENST00000277541.6	-	18	2917	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	948	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E948*(1)|p.E949*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACACTCGTTGATGTCC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	74					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816493	29816493	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:29816493A>C	ENST00000561482.1	+	13	2381	c.1744A>C	c.(1744-1746)Aag>Cag	p.K582Q	KIF22_ENST00000569382.2_Missense_Mutation_p.K596Q|KIF22_ENST00000400751.5_Missense_Mutation_p.K582Q|KIF22_ENST00000160827.4_Missense_Mutation_p.K650Q	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	650					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GTCCTTCCTGAAGGTGAAGTC	0.642000													31	72					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35466109	35466109	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:35466109C>T	ENST00000229771.6	-	15	1703	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	TULP1_ENST00000322263.4_Missense_Mutation_p.E489K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	542					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGGGTCACTCGCAGGCCAGC	0.682000													3	6					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14104375	14104375	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr19:14104375G>A	ENST00000254325.4	-	2	515	c.281C>T	c.(280-282)tCg>tTg	p.S94L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	94					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGGTGCAGGCGAAGGGGTGGG	0.637000													3	29					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15493755	15493755	+	Silent	SNP	G	G	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr2:15493755G>C	ENST00000281513.5	-	34	4036	c.4011C>G	c.(4009-4011)ctC>ctG	p.L1337L	NBAS_ENST00000441750.1_Silent_p.L1217L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1337										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						CAAAAGCCATGAGCTCTTGAC	0.448000													38	100					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151535162	151535162	+	Splice_Site	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:151535162G>A	ENST00000368849.3	+	3	299	c.237_splice	c.e3+1	p.K79_splice	TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000538902.1_Splice_Site_p.K98_splice|TUFT1_ENST00000392712.3_Splice_Site_p.K54_splice|TUFT1_ENST00000368848.2_Splice_Site_p.K54_splice	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	79					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGATCATTAAGGTAAGCTTAG	0.507000													9	22					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199746	155199746	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:155199746C>T	ENST00000460012.1	-	23	4336	c.3979G>A	c.(3979-3981)Gaa>Aaa	p.E1327K	PLCH1_ENST00000414191.1_Missense_Mutation_p.E1327K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1327K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1365K|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1365					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTCTGATTCTCCATCAATT	0.453000													14	49					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742495	98742495	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr10:98742495G>A	ENST00000286067.2	+	1	1455	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	450										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAACCCCAGTGAAACTGAGGA	0.463000													59	102					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641185	2641185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:2641185G>A	ENST00000380843.4	-	7	613	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Nonsense_Mutation_p.Q195*	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	195					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	GCAATCCGCTGAGACTTGGCT	0.527000													35	75					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474306	43474306	+	Missense_Mutation	SNP	C	C	G	rs148897544		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr17:43474306C>G	ENST00000532038.1	-	10	1396	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E275Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E302Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E621Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.E643Q|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E616Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E302Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	643	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGTCCTCCTCTTTCTCCTGC	0.667000													5	37					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687518	3687518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:3687518C>T	ENST00000250699.2	-	5	1243	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	391					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCTTCCTGGCGGCACAGACA	0.672000													28	56					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904028	12904028	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chrX:12904028T>C	ENST00000380659.3	+	3	540	c.401T>C	c.(400-402)cTg>cCg	p.L134P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	134					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCCCTTTACCTGGATGGAAAC	0.453000													47	58					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887621	97887621	+	Silent	SNP	C	C	A			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:97887621C>A	ENST00000356526.2	+	1	78	c.78C>A	c.(76-78)ccC>ccA	p.P26P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGAAAATACCCCTGTTCTTGG	0.418000													32	188					1.30897e-18	1.67527e-18	1	1	0
CD163	9332	broad.mit.edu	37	12	7654016	7654016	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:7654016T>C	ENST00000359156.4	-	3	378	c.176A>G	c.(175-177)aAg>aGg	p.K59R	CD163_ENST00000541972.1_Missense_Mutation_p.K47R|CD163_ENST00000396620.3_Missense_Mutation_p.K59R|CD163_ENST00000432237.2_Missense_Mutation_p.K59R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	59	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCGCTACACTTGTTTTCACC	0.483000													40	80					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2443398	2443398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr11:2443398C>T	ENST00000452833.1	-	2	279	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	TRPM5_ENST00000533060.1_Missense_Mutation_p.G91R|TRPM5_ENST00000528453.1_Missense_Mutation_p.G91R|TRPM5_ENST00000155858.6_Missense_Mutation_p.G91R			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	91						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCACCAGCCCCTTGCGCAGC	0.697000													9	16					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134960130	134960130	+	Silent	SNP	C	C	T			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr3:134960130C>T	ENST00000398015.3	+	13	2857	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S	EPHB1_ENST00000493838.1_Silent_p.S390S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	829	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGATATGTCCAACCAAGATG	0.507000													29	151					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067188	190067188	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr1:190067188delG	ENST00000367462.3	-	8	2492	c.2261delC	c.(2260-2262)cafs	p.P754fs	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Del_p.P652fs	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		754						extracellular region		p.P754Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CATTGTGTTTGGCAATTTGGC	0.408													51	128	---	---	---	---					
BBS12	166379	broad.mit.edu	37	4	123663258	123663259	+	Frame_Shift_Ins	INS	-	-	G	rs143960329	byFrequency	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:123663258_123663259insG	ENST00000542236.1	+	3	592_593	c.211_212insG	c.(211-213)tgafs	p.*71fs	BBS12_ENST00000314218.3_Frame_Shift_Ins_p.*71fs	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	71					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACAACTTCTCAATGAAGCAGTT	0.361									Bardet-Biedl syndrome				14	71	---	---	---	---					
INTU	27152	broad.mit.edu	37	4	128564897	128564897	+	Frame_Shift_Del	DEL	T	T	-	rs55831204		TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr4:128564897delT	ENST00000335251.5	+	2	471	c.368delT	c.(367-369)ctfs	p.L124fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.L124fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	124										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGGAAAAGACTTTTACCCAAG	0.348													13	50	---	---	---	---					
COL4A3BP	10087	broad.mit.edu	37	5	74754917	74754918	+	In_Frame_Ins	INS	-	-	TGC			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr5:74754917_74754918insTGC	ENST00000380494.5	-	4	997_998	c.704_705insGCA	c.(703-705)ctg>cGCAtg	p.235_235L>RM	COL4A3BP_ENST00000261415.7_In_Frame_Ins_p.107_107L>RM|COL4A3BP_ENST00000405807.4_In_Frame_Ins_p.107_107L>RM	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	107					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATCTATCCATTGCTGTCTATG	0.381													9	43	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													3	6	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64057579	64057579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr12:64057579delG	ENST00000324472.4	-	3	592	c.409delC	c.(409-411)tcfs	p.L137fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	137					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGATGAGAGGTGAGAGAAA	0.328													12	54	---	---	---	---					
SUGT1P3	283507	broad.mit.edu	37	13	41486862	41486862	+	RNA	DEL	A	A	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr13:41486862delA	ENST00000304932.4	-	0	214					NR_003365.2																						cgtctctactaaaaaaaaaat	0.517													2	4	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20851649	20851649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr14:20851649delG	ENST00000262715.5	-	26	3905	c.3865delC	c.(3865-3867)ggfs	p.R1289fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.R1181fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1289	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACACTCACCCGGGGAAGCTTC	0.582													8	43	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763868	72763868	+	RNA	DEL	C	C	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr16:72763868delC	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAA	0.433													2	4	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9546780	9546780	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:9546780delG	ENST00000378429.3	-	6	1788	c.1242delC	c.(1240-1242)ccfs	p.P414fs	PAK7_ENST00000353224.5_Frame_Shift_Del_p.P414fs|PAK7_ENST00000378423.1_Frame_Shift_Del_p.P414fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	414	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCCCCAGCTGGGCGGCGGGT	0.647													23	37	---	---	---	---					
FAM65C	140876	broad.mit.edu	37	20	49211104	49211104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr20:49211104delC	ENST00000327979.2	-	17	2597	c.2186delG	c.(2185-2187)gafs	p.G729fs	FAM65C_ENST00000535356.1_Frame_Shift_Del_p.G733fs|FAM65C_ENST00000045083.2_Frame_Shift_Del_p.G729fs			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	729										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCAGCTGTCCTGGGTACTT	0.607													14	49	---	---	---	---					
KLHDC7B	113730	broad.mit.edu	37	22	50987170	50987170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47A-01A-21D-A24D-08	TCGA-44-A47A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e730e192-b43c-4a71-950d-4739754ad4e7	fa9caac9-ec8a-4b4f-83d3-e07244dd870e	g.chr22:50987170delG	ENST00000395676.2	+	1	709	c.575delG	c.(574-576)tgfs	p.W192fs		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	192										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGGGGGTTGGGGGGTGGTG	0.766													2	4	---	---	---	---