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
NCKAP1L	3071	broad.mit.edu	37	12	54910753	54910753	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:54910753G>A	ENST00000293373.6	+	11	1151	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E308K|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	358					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTTGGCTGATGAACCGGGACT	0.507000													9	88					0	0	0.000673	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306523	140306523	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140306523G>A	ENST00000253807.2	+	1	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G16S|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCTGCGGCGCTGCAGC	0.642000													5	47					0	0	0.000602	0	0
MEIOB	254528	broad.mit.edu	37	16	1891862	1891862	+	Silent	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:1891862G>C	ENST00000412554.2	-	11	1187	c.993C>G	c.(991-993)ctC>ctG	p.L331L	MEIOB_ENST00000452149.2_Silent_p.L331L|MEIOB_ENST00000325962.3_Silent_p.L331L|MEIOB_ENST00000470044.1_Silent_p.L124L|MEIOB_ENST00000397344.3_Silent_p.L331L|LA16c-429E7.1_ENST00000570247.1_RNA	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		CATCAATGTTGAGTGTGGAAA	0.328000													4	37					0	0	0.000248	0	0
THOC2	57187	broad.mit.edu	37	X	122747943	122747943	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122747943C>T	ENST00000245838.8	-	34	4440	c.4409G>A	c.(4408-4410)aGa>aAa	p.R1470K	THOC2_ENST00000355725.4_Missense_Mutation_p.R1470K|THOC2_ENST00000491737.1_Missense_Mutation_p.R1355K|THOC2_ENST00000464992.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1470	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCTCTCTTTCTCTGGA	0.378000													8	111					0	0	0.003080	0	0
DMTF1	9988	broad.mit.edu	37	7	86815200	86815200	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:86815200G>A	ENST00000414194.2	+	12	2099	c.307G>A	c.(307-309)Gag>Aag	p.E103K	DMTF1_ENST00000331242.7_Missense_Mutation_p.E369K|DMTF1_ENST00000413276.2_Missense_Mutation_p.E369K|DMTF1_ENST00000432937.2_Missense_Mutation_p.E281K|DMTF1_ENST00000394703.5_Missense_Mutation_p.E369K			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	369	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCTGTTAGCTGAGGGATGGAG	0.393000													10	69					0	0	0.000443	0	0
TNFSF8	944	broad.mit.edu	37	9	117692466	117692466	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:117692466A>G	ENST00000223795.2	-	1	231	c.118T>C	c.(118-120)Tat>Cat	p.Y40H		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	40					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTGGTCAAATAGAAATAGCTG	0.597000													13	114					0	0	0.001368	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063499	59063499	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:59063499C>T	ENST00000600118.1	-	3	827	c.402G>A	c.(400-402)gaG>gaA	p.E134E	CHMP2A_ENST00000601220.1_Silent_p.E134E|CHMP2A_ENST00000312547.2_Silent_p.E134E			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	134	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TATCCATGATCTCTGCCTGCC	0.512000													12	186					0	0	0.001855	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264038	140264038	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140264038G>A	ENST00000289272.2	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E729K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_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)			ACCGCCCACCGAGGGCGCGTG	0.647000													6	125					0	0	0.001168	0	0
ZNF274	10782	broad.mit.edu	37	19	58697097	58697097	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:58697097G>A	ENST00000326804.4	+	3	511	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ZNF274_ENST00000345813.3_Missense_Mutation_p.D18N|ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCTTTGAAGATGTAACACT	0.517000													12	97					0	0	0.001368	0	0
IKBKAP	8518	broad.mit.edu	37	9	111670656	111670656	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:111670656C>T	ENST00000374647.5	-	13	1696	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	IKBKAP_ENST00000537196.1_Silent_p.V114V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	463					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCCAGTTTCACTGTAGGGT	0.388000													4	45					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187516881	187516881	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516881G>C	ENST00000441802.2	-	26	13309	c.13100C>G	c.(13099-13101)tCt>tGt	p.S4367C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4367					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGAGCTCAGAGACTGCACTTC	0.517000										HNSCC(5;0.00058)			10	90					0	0	0.000978	0	0
YES1	7525	broad.mit.edu	37	18	743308	743308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:743308G>A	ENST00000584307.1	-	7	1002	c.832C>T	c.(832-834)Cga>Tga	p.R278*	YES1_ENST00000314574.4_Nonsense_Mutation_p.R278*|YES1_ENST00000577961.1_Nonsense_Mutation_p.R283*			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	278	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ACCTCTAGTCGCAAAGATTCT	0.423000													8	55					0	0	0.003080	0	0
SLC41A3	54946	broad.mit.edu	37	3	125775279	125775279	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:125775279G>C	ENST00000383598.2	-	1	402	c.117C>G	c.(115-117)atC>atG	p.I39M	SLC41A3_ENST00000514023.1_Intron|SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000315891.6_Intron|SLC41A3_ENST00000360370.4_Intron|SLC41A3_ENST00000508835.1_Intron	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	65						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCTGGCACATGATGGTGAAGA	0.552000													3	34					0	0	0.004672	0	0
GLIS1	148979	broad.mit.edu	37	1	54060498	54060498	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:54060498G>A	ENST00000312233.2	-	3	644	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	26					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TTCGGCCCGGGAGGTCCAGGT	0.706000													3	11					0	0	0.004672	0	0
ACSL5	51703	broad.mit.edu	37	10	114169340	114169340	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:114169340C>T	ENST00000393081.1	+	7	915	c.608C>T	c.(607-609)aCc>aTc	p.T203I	ACSL5_ENST00000354655.4_Missense_Mutation_p.T203I|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000356116.1_Missense_Mutation_p.T259I|ACSL5_ENST00000433418.1_Missense_Mutation_p.T203I|ACSL5_ENST00000354273.4_Missense_Mutation_p.T203I	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	203					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AAAGGCTTCACCCCGAGCCTG	0.478000													16	118					0	0	0.004007	0	0
CNTROB	116840	broad.mit.edu	37	17	7838431	7838431	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:7838431G>C	ENST00000380262.3	+	4	1487	c.562G>C	c.(562-564)Gat>Cat	p.D188H	CNTROB_ENST00000380255.3_Missense_Mutation_p.D188H|CNTROB_ENST00000563694.1_Missense_Mutation_p.D188H|CNTROB_ENST00000565740.1_Missense_Mutation_p.D188H	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	188					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGGGCTGAGAGATGCATTGGA	0.542000													3	65					0	0	0.004672	0	0
NFAT5	10725	broad.mit.edu	37	16	69689635	69689635	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:69689635G>C	ENST00000349945.1	+	7	2399	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	NFAT5_ENST00000393742.2_Missense_Mutation_p.E283Q|NFAT5_ENST00000354436.2_Missense_Mutation_p.E359Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000566899.1_Missense_Mutation_p.E283Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	359	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTTGCAAAGAAGTGGACAT	0.423000													3	71					0	0	0.004672	0	0
TAF1L	138474	broad.mit.edu	37	9	32632475	32632475	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:32632475C>T	ENST00000242310.4	-	1	3192	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1035					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTTTAATCTCTTCCTCAGGC	0.488000													22	234					0	0	0.001882	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572483	120572483	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:120572483G>A	ENST00000300648.6	-	52	7068	c.7056C>T	c.(7054-7056)ttC>ttT	p.F2352F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2352					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCTTTGGTGAAAGTGGTCT	0.582000													8	69					0	0	0.000673	0	0
DAAM2	23500	broad.mit.edu	37	6	39843215	39843215	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:39843215G>A	ENST00000538976.1	+	11	1454	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	DAAM2_ENST00000398904.2_Silent_p.E424E|DAAM2_ENST00000274867.4_Silent_p.E424E	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	424					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTCCCTTGGAGAACTTCAATG	0.577000													11	79					0	0	0.000978	0	0
GRK5	2869	broad.mit.edu	37	10	121207689	121207689	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:121207689G>A	ENST00000392870.2	+	13	1650	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	GRK5_ENST00000369108.3_Missense_Mutation_p.E336K	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	441	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGGGGCTGCAGAGGTCAAGAG	0.597000													21	116					0	0	0.001216	0	0
ABCD1	215	broad.mit.edu	37	X	153006171	153006171	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:153006171G>C	ENST00000218104.3	+	7	2177	c.1778G>C	c.(1777-1779)gGa>gCa	p.G593A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	593	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGGAGGGAGGTAGGAGG	0.612000													10	71					0	0	0.000443	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	51					0	0	0.000248	0	0
NRP1	8829	broad.mit.edu	37	10	33502550	33502550	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:33502550C>G	ENST00000265371.4	-	10	1903	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NRP1_ENST00000395995.1_Missense_Mutation_p.E460Q|NRP1_ENST00000374816.3_Missense_Mutation_p.E460Q|NRP1_ENST00000374821.5_Missense_Mutation_p.E460Q|NRP1_ENST00000374822.4_Missense_Mutation_p.E460Q|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374823.5_Missense_Mutation_p.E460Q|NRP1_ENST00000374867.2_Missense_Mutation_p.E460Q			O14786	NRP1_HUMAN	neuropilin 1	460	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CGGATGTTTTCAGGCATCCAG	0.517000													11	136					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139164247	139164247	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:139164247C>A	ENST00000395297.1	-	13	2641	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	824										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGGTCTGCTCCAGCATCTGT	0.507000										HNSCC(54;0.14)			7	76					1.12685e-05	5.57705e-05	0.004482	1	0
SMC4	10051	broad.mit.edu	37	3	160149430	160149430	+	Splice_Site	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:160149430G>A	ENST00000357388.3	+	21	3565		c.e21-1		RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Splice_Site|SMC4_ENST00000469762.1_Splice_Site|SMC4_ENST00000344722.5_Splice_Site|SMC4_ENST00000360111.2_Splice_Site	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAACTTTTAGATTTCAAAAA	0.313000													4	66					0	0	0.000248	0	0
NPEPPS	9520	broad.mit.edu	37	17	45662950	45662950	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:45662950C>G	ENST00000322157.4	+	6	970	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	NPEPPS_ENST00000544660.1_Missense_Mutation_p.L165V|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.L241V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	245					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GTCTACATATCTGGTGGCATT	0.403000													19	133					0	0	0.001216	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594257	100594257	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:100594257G>C	ENST00000268070.4	-	16	2245	c.2140C>G	c.(2140-2142)Ctc>Gtc	p.L714V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	714	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GAGTCTTTGAGAGCTAGAAAG	0.537000													11	126					0	0	0.000978	0	0
KRBA2	124751	broad.mit.edu	37	17	8274828	8274828	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8274828G>C	ENST00000331336.2	-	1	30	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	9					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GAAGAGACAAGAGAGGGCACC	0.483000													3	56					0	0	0.004672	0	0
CDH11	1009	broad.mit.edu	37	16	65032553	65032553	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:65032553G>C	ENST00000394156.3	-	4	888	c.435C>G	c.(433-435)ttC>ttG	p.F145L	CDH11_ENST00000566827.1_Missense_Mutation_p.F19L|CDH11_ENST00000268603.4_Missense_Mutation_p.F145L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTTGACAATGAATTCCGACG	0.567000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	65					0	0	0.004672	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490456	45490456	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:45490456G>A	ENST00000541297.2	+	8	1236	c.771G>A	c.(769-771)gtG>gtA	p.V257V	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.V169V|CLPTM1_ENST00000337392.5_Silent_p.V271V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	271					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGACGCCGTGAGCGGTGACT	0.612000													17	157					0	0	0.000566	0	0
SPIN3	169981	broad.mit.edu	37	X	57020780	57020780	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:57020780C>T	ENST00000374919.3	-	2	923	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	201					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCTCCTGGCTCCCTCTCTGCC	0.463000													11	63					0	0	0.000978	0	0
KMT2A	4297	broad.mit.edu	37	11	118374023	118374023	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:118374023G>C	ENST00000534358.1	+	27	7439	c.7416G>C	c.(7414-7416)ttG>ttC	p.L2472F	KMT2A_ENST00000354520.4_Missense_Mutation_p.L2431F|KMT2A_ENST00000389506.5_Missense_Mutation_p.L2469F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATGAGGTTTTGACTCCTGAGT	0.433000													5	68					0	0	0.001168	0	0
CD248	57124	broad.mit.edu	37	11	66083138	66083138	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:66083138G>C	ENST00000311330.3	-	1	1377	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	454	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ATGCGTGGCAGAGACCACCAC	0.667000													7	106					0	0	0.001984	0	0
CSF2	1437	broad.mit.edu	37	5	131411512	131411512	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:131411512C>T	ENST00000296871.2	+	4	436	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	134					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TGCTTGTCATCCCCTTTGACT	0.463000													5	115					0	0	0.001168	0	0
ESR2	2100	broad.mit.edu	37	14	64716327	64716327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:64716327G>A	ENST00000557772.1	-	6	1161	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ESR2_ENST00000554572.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000553796.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000555278.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000542956.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Nonsense_Mutation_p.R388*|ESR2_ENST00000357782.2_Nonsense_Mutation_p.R388*|ESR2_ENST00000353772.3_Nonsense_Mutation_p.R388*|ESR2_ENST00000341099.4_Nonsense_Mutation_p.R388*|ESR2_ENST00000267525.6_Intron	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	388	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTTAACTCTCGAAACCTTGAA	0.423000													10	62					0	0	0.000443	0	0
OR2T6	254879	broad.mit.edu	37	1	248551279	248551279	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:248551279G>A	ENST00000355728.2	+	1	370	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	124					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)			TGACCGCTACGTGGCCATCTG	0.567000													10	68					0	0	0.000443	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043604	26043604	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:26043604C>T	ENST00000357905.2	-	1	281	c.282G>A	c.(280-282)gaG>gaA	p.E94E		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	94					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCGTCTGAATCTCCCTGGAGG	0.562000													5	99					0	0	0.001168	0	0
CEP170B	283638	broad.mit.edu	37	14	105355926	105355926	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:105355926C>T	ENST00000453495.1	+	13	4045	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	CEP170B_ENST00000418279.1_Intron|CEP170B_ENST00000414716.3_Intron|CEP170B_ENST00000556508.1_Missense_Mutation_p.P1202S					centrosomal protein 170B																		CCACGGCTCCCCCAAACACAC	0.667000													5	19					0	0	0.000602	0	0
INTS10	55174	broad.mit.edu	37	8	19683985	19683985	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:19683985C>T	ENST00000397977.3	+	9	1453	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	352					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAAGATGTATCGAATGTGTAT	0.433000													13	101					0	0	0.001368	0	0
SPHK2	56848	broad.mit.edu	37	19	49129394	49129394	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:49129394G>A	ENST00000443164.1	+	1	1177	c.472G>A	c.(472-474)Gag>Aag	p.E158K	SPHK2_ENST00000599029.1_Missense_Mutation_p.E60K|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000599748.1_Missense_Mutation_p.E60K|SPHK2_ENST00000598088.1_Missense_Mutation_p.E96K|SPHK2_ENST00000600537.1_Missense_Mutation_p.E37K|SPHK2_ENST00000340932.3_Missense_Mutation_p.E60K|SPHK2_ENST00000245222.4_Missense_Mutation_p.E96K|SPHK2_ENST00000601712.1_Missense_Mutation_p.E60K			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	96	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCGTTGGCCGAGGTCTCAGG	0.701000													8	47					0	0	0.003080	0	0
VAT1L	57687	broad.mit.edu	37	16	77896753	77896753	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:77896753G>C	ENST00000302536.2	+	4	841	c.688G>C	c.(688-690)Gac>Cac	p.D230H	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	230							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCACCTCTTTGACAGAAATGC	0.473000													4	112					0	0	0.000248	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954294	32954294	+	Missense_Mutation	SNP	G	G	A	rs148244577	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:32954294G>A	ENST00000342179.5	+	13	1560	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	DPY19L3_ENST00000586987.1_Missense_Mutation_p.V449M|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.V449M	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	449						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCAACAATCCGTGGGTAAAAT	0.338000													6	52					0	0	0.001168	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555757	101555757	+	Missense_Mutation	SNP	G	G	A	rs142965122		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:101555757G>A	ENST00000536262.2	-	13	2183	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	542					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTACCTGTTGATAAACTGAC	0.313000													6	178					0	0	0.001984	0	0
RSF1	51773	broad.mit.edu	37	11	77412372	77412372	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412372G>C	ENST00000308488.6	-	6	2204	c.1902C>G	c.(1900-1902)atC>atG	p.I634M	RSF1_ENST00000480887.1_Missense_Mutation_p.I382M|RSF1_ENST00000360355.2_Missense_Mutation_p.I603M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	634					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTGGTCAATGATATTAGATG	0.428000													8	106					0	0	0.003080	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													6	79					0	0	0.001168	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66759798	66759798	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66759798C>T	ENST00000258198.2	-	12	1517	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	DYNC1LI2_ENST00000443351.2_Silent_p.L360L|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	437					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTTTACTCAACAGACTGT	0.458000													7	187					0	0	0.003080	0	0
EIF5B	9669	broad.mit.edu	37	2	100007051	100007051	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:100007051G>C	ENST00000289371.5	+	17	2833	c.2631G>C	c.(2629-2631)ttG>ttC	p.L877F		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	877					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						ATGTCATCTTGATCAATGGGC	0.438000													3	80					0	0	0.004672	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349042	30349042	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:30349042C>G	ENST00000327564.7	+	1	1019	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q293E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q211E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q305E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q293E			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	293						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAGCTCCCTCAGGAGGTAGA	0.522000													16	127					0	0	0.003163	0	0
USO1	8615	broad.mit.edu	37	4	76708301	76708301	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:76708301G>A	ENST00000538159.1	+	10	948	c.948G>A	c.(946-948)caG>caA	p.Q316Q	USO1_ENST00000514213.2_Silent_p.Q299Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	314	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTATTGCAGCAGCTTTGTA	0.468000													7	104					0	0	0.004482	0	0
DDX42	11325	broad.mit.edu	37	17	61889312	61889312	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61889312G>C	ENST00000578681.1	+	15	2020	c.1419G>C	c.(1417-1419)caG>caC	p.Q473H	DDX42_ENST00000583590.1_Missense_Mutation_p.Q473H|DDX42_ENST00000457800.2_Missense_Mutation_p.Q473H|DDX42_ENST00000389924.2_Missense_Mutation_p.Q473H|DDX42_ENST00000359353.5_Missense_Mutation_p.Q354H	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	473					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATGTGACACAGATTGTGGAGA	0.443000													27	275					0	0	0.001512	0	0
CTNND1	1500	broad.mit.edu	37	11	57578934	57578934	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:57578934C>T	ENST00000524630.1	+	16	3109	c.2596C>T	c.(2596-2598)Ctc>Ttc	p.L866F	CTNND1_ENST00000428599.2_Missense_Mutation_p.L866F|CTNND1_ENST00000527467.1_Missense_Mutation_p.L549F|CTNND1_ENST00000529526.1_Missense_Mutation_p.L812F|CTNND1_ENST00000361391.6_Missense_Mutation_p.L866F|CTNND1_ENST00000525902.1_Missense_Mutation_p.L549F|CTNND1_ENST00000532844.1_Missense_Mutation_p.L818F|CTNND1_ENST00000526938.1_Missense_Mutation_p.L872F|CTNND1_ENST00000426142.2_Missense_Mutation_p.L765F|CTNND1_ENST00000360682.6_Missense_Mutation_p.L872F|CTNND1_ENST00000529919.1_Missense_Mutation_p.L872F|CTNND1_ENST00000532463.1_Missense_Mutation_p.L765F|CTNND1_ENST00000399039.4_Missense_Mutation_p.L872F|CTNND1_ENST00000530748.1_Missense_Mutation_p.L818F|CTNND1_ENST00000533667.1_Missense_Mutation_p.L543F|CTNND1_ENST00000532245.1_Missense_Mutation_p.L765F|CTNND1_ENST00000529873.1_Missense_Mutation_p.L812F|CTNND1_ENST00000361332.4_Missense_Mutation_p.L866F|CTNND1_ENST00000529986.1_Missense_Mutation_p.L765F|CTNND1_ENST00000526357.1_Missense_Mutation_p.L812F|CTNND1_ENST00000415361.2_Missense_Mutation_p.L771F|CTNND1_ENST00000528232.1_Missense_Mutation_p.L771F|CTNND1_ENST00000532787.1_Missense_Mutation_p.L765F|CTNND1_ENST00000528621.1_Missense_Mutation_p.L812F|CTNND1_ENST00000361796.4_Missense_Mutation_p.L866F|CTNND1_ENST00000531014.1_Missense_Mutation_p.L543F|CTNND1_ENST00000534579.1_Missense_Mutation_p.L812F|CTNND1_ENST00000526772.1_Missense_Mutation_p.L543F|CTNND1_ENST00000358694.6_Missense_Mutation_p.L866F|CTNND1_ENST00000532649.1_Missense_Mutation_p.L812F|CTNND1_ENST00000530094.1_Missense_Mutation_p.L765F|CTNND1_ENST00000399050.4_Missense_Mutation_p.L872F			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	872					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TACTCTCCCTCTCATTGACCG	0.438000													8	158					0	0	0.003080	0	0
LGI1	9211	broad.mit.edu	37	10	95556810	95556810	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:95556810C>G	ENST00000371418.4	+	8	1184	c.924C>G	c.(922-924)atC>atG	p.I308M	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I260M	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	308					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCTCTCACATCTATAAGCGAG	0.373000													4	77					0	0	0.000248	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279568	217279568	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:217279568C>T	ENST00000357276.4	+	3	471	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SMARCAL1_ENST00000358207.5_Silent_p.F47F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	47					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCAACCCATTCCAGGCCAAGC	0.507000									Schimke Immuno-Osseous Dysplasia				14	181					0	0	0.002450	0	0
RUFY2	55680	broad.mit.edu	37	10	70156542	70156542	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:70156542G>A	ENST00000388768.2	-	4	824	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RUFY2_ENST00000342616.4_Silent_p.L131L|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Silent_p.L73L|RUFY2_ENST00000602465.1_Silent_p.L131L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	180	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTAACCTCAAGAGATCCCTCT	0.353000													6	41					0	0	0.001168	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101724493	101724493	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101724493C>T	ENST00000506729.1	-	12	2087	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G577E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G386E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G639E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G386E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	639						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGAAGTTTCTCCTGACATTTT	0.323000													5	22					0	0	0.001168	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734878	140734878	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140734878G>T	ENST00000571252.1	+	1	111	c.111G>T	c.(109-111)gaG>gaT	p.E37D	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTTTGAGGAGCAGGAAG	0.632000													10	80					7.48243e-07	3.72213e-06	0.000443	1	0
GIGYF1	64599	broad.mit.edu	37	7	100281196	100281196	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100281196C>G	ENST00000275732.5	-	17	3238	c.2029G>C	c.(2029-2031)Gaa>Caa	p.E677Q		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	677										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGAGTTGTTCTAGAATTGGA	0.612000													10	158					0	0	0.000978	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229699	140229699	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140229699C>T	ENST00000378122.3	+	1	2343	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A540V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.667000													20	154					0	0	0.001523	0	0
NTMT1	28989	broad.mit.edu	37	9	132397708	132397708	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:132397708G>C	ENST00000372486.1	+	4	986	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	NTMT1_ENST00000482347.1_Missense_Mutation_p.E125Q|NTMT1_ENST00000372480.1_Missense_Mutation_p.E213Q|NTMT1_ENST00000372483.4_Missense_Mutation_p.E213Q|NTMT1_ENST00000372481.3_3'UTR					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		CCTCCCCGATGAGATCTACCA	0.627000													7	119					0	0	0.003080	0	0
VCL	7414	broad.mit.edu	37	10	75855416	75855416	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:75855416C>G	ENST00000211998.4	+	12	1640	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.Q516E	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	516	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGGTCCAGGTCAGGCTGCCAT	0.527000													4	88					0	0	0.000248	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272940	43272940	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:43272940C>T	ENST00000263246.3	-	9	1306	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000402229.1_Missense_Mutation_p.D369N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.D369N|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	369					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGCCCGTGTCGTCCTCATCC	0.567000													12	164					0	0	0.001368	0	0
MIPOL1	145282	broad.mit.edu	37	14	37777588	37777588	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:37777588C>G	ENST00000327441.7	+	10	1158	c.692C>G	c.(691-693)gCa>gGa	p.A231G	MIPOL1_ENST00000556451.1_Missense_Mutation_p.A200G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.A200G|MIPOL1_ENST00000536774.1_Missense_Mutation_p.A50G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.A231G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.A200G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.A231G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	231										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATAAACAATGCAGACACAGGG	0.313000													5	128					0	0	0.000602	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24955123	24955123	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:24955123G>A	ENST00000289968.6	-	15	1371	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ARHGAP17_ENST00000303665.5_Silent_p.I434I|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	434	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CATGCTGAATGATGGGTTCAA	0.428000													6	74					0	0	0.001168	0	0
KMT2A	4297	broad.mit.edu	37	11	118374030	118374030	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:118374030G>A	ENST00000534358.1	+	27	7446	c.7423G>A	c.(7423-7425)Gag>Aag	p.E2475K	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2434K|KMT2A_ENST00000389506.5_Missense_Mutation_p.E2472K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTTGACTCCTGAGTATATGGG	0.438000													5	67					0	0	0.001168	0	0
GPR158	57512	broad.mit.edu	37	10	25887142	25887142	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:25887142G>C	ENST00000376351.3	+	11	2946	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	863						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAAACTAAAAGAAGACAGCGA	0.507000													5	144					0	0	0.000602	0	0
ACADS	35	broad.mit.edu	37	12	121164932	121164932	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:121164932G>A	ENST00000242592.4	+	2	301	c.150G>A	c.(148-150)gaG>gaA	p.E50E	ACADS_ENST00000411593.2_Silent_p.E50E	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	50						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ACTTTGCCGAGAAGGAGTTGT	0.572000													11	184					0	0	0.000978	0	0
FLRT2	23768	broad.mit.edu	37	14	86088748	86088748	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:86088748A>G	ENST00000330753.4	+	2	1657	c.890A>G	c.(889-891)gAt>gGt	p.D297G	FLRT2_ENST00000554746.1_Missense_Mutation_p.D297G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	297					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGTTTTTGATAATCTCTCC	0.443000													21	234					0	0	0.001216	0	0
LRP2	4036	broad.mit.edu	37	2	170050332	170050332	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:170050332C>G	ENST00000263816.3	-	47	9054	c.8769G>C	c.(8767-8769)tgG>tgC	p.W2923C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2923	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGTCACAGATCCATTCGCTTG	0.463000													5	98					0	0	0.000602	0	0
GPR107	57720	broad.mit.edu	37	9	132854657	132854657	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:132854657G>A	ENST00000372406.1	+	9	1367	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	GPR107_ENST00000347136.6_Missense_Mutation_p.R287Q|GPR107_ENST00000372410.3_Missense_Mutation_p.R287Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	287						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CTTCGAAAACGACGGTAAACT	0.418000													6	71					0	0	0.001984	0	0
ACAD9	28976	broad.mit.edu	37	3	128631364	128631364	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:128631364C>G	ENST00000308982.7	+	18	1861	c.1780C>G	c.(1780-1782)Cta>Gta	p.L594V	ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	594						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAGAAAACCTAGATGAGCA	0.502000													12	57					0	0	0.000978	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618637	89618637	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:89618637C>A	ENST00000323061.5	-	1	749	c.269G>T	c.(268-270)cGa>cTa	p.R90L	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	90					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CTTATCGCATCGCTTCTGCAG	0.458000													12	119					6.40141e-05	0.000315221	0.000978	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20876121	20876121	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:20876121G>A	ENST00000381552.1	+	9	1487	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	SLCO1C1_ENST00000545102.1_Silent_p.V255V|SLCO1C1_ENST00000545604.1_Silent_p.V373V|SLCO1C1_ENST00000540354.1_Silent_p.V324V|SLCO1C1_ENST00000266509.2_Silent_p.V373V			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	373					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCGGCATGGTGACGTACAAAC	0.423000													7	81					0	0	0.003080	0	0
RSF1	51773	broad.mit.edu	37	11	77412118	77412118	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412118G>A	ENST00000308488.6	-	6	2458	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	RSF1_ENST00000480887.1_Missense_Mutation_p.S467L|RSF1_ENST00000360355.2_Missense_Mutation_p.S688L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	719					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTATTTTCTGAGGCAGTGGT	0.428000													6	110					0	0	0.001168	0	0
SOS1	6654	broad.mit.edu	37	2	39234255	39234255	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234255C>G	ENST00000426016.1	-	17	2676	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q	SOS1_ENST00000402219.2_Missense_Mutation_p.E864Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E864Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	864	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGTTCAACTCTTGAAAGACT	0.358000									Noonan syndrome				11	126					0	0	0.001368	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431616	56431616	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:56431616G>A	ENST00000302969.2	+	1	479	c.455G>A	c.(454-456)gGt>gAt	p.G152D		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TACCTGGCTGGTCTAGTGAGT	0.502000													13	161					0	0	0.001368	0	0
NUP93	9688	broad.mit.edu	37	16	56839414	56839414	+	Splice_Site	SNP	A	A	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:56839414A>T	ENST00000564887.1	+	3	620		c.e3-1		NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Splice_Site|NUP93_ENST00000542526.1_Splice_Site|NUP93_ENST00000569842.1_Splice_Site	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCTTTCTGGCAGACCTTCGGC	0.473000													4	45					0	0	0.000248	0	0
FGFR3	2261	broad.mit.edu	37	4	1801486	1801486	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:1801486C>T	ENST00000340107.4	+	4	648	c.392C>T	c.(391-393)tCg>tTg	p.S131L	FGFR3_ENST00000412135.2_Missense_Mutation_p.S131L|FGFR3_ENST00000481110.2_Missense_Mutation_p.S131L|FGFR3_ENST00000352904.1_Missense_Mutation_p.S131L|FGFR3_ENST00000260795.2_Missense_Mutation_p.S131L|FGFR3_ENST00000440486.2_Missense_Mutation_p.S131L	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	131					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCTCCATCCTCGGGAGATGAC	0.677000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	40					0	0	0.001168	0	0
GLI3	2737	broad.mit.edu	37	7	42084994	42084994	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:42084994T>A	ENST00000395925.3	-	6	899	c.815A>T	c.(814-816)cAt>cTt	p.H272L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	272					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCCATAGCATGAAGATATTC	0.502000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				23	217					0	0	0.003330	0	0
CYP2R1	120227	broad.mit.edu	37	11	14900748	14900748	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14900748C>A	ENST00000532378.1	-	5	1397	c.543G>T	c.(541-543)tgG>tgT	p.W181C	CYP2R1_ENST00000334636.5_Missense_Mutation_p.W414C			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	414					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGGGTCTCTCCAGTACTTTT	0.408000													5	53					0.000602214	0.00289241	0.000602	1	0
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512000													4	33					0	0	0.000248	0	0
IQCC	55721	broad.mit.edu	37	1	32673134	32673134	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:32673134G>A	ENST00000537469.1	+	5	1139	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	IQCC_ENST00000291358.6_Silent_p.P284P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	284										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGACCACCGTCGTCTATAC	0.537000													10	57					0	0	0.000443	0	0
KIAA0922	23240	broad.mit.edu	37	4	154544100	154544100	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:154544100G>A	ENST00000409959.3	+	29	3959	c.3910G>A	c.(3910-3912)Gat>Aat	p.D1304N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1220N|KIAA0922_ENST00000409663.3_Missense_Mutation_p.D1303N	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1303	Ser-rich.					integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTTCTGCTCCGATTCCAGCTC	0.562000													14	121					0	0	0.004007	0	0
CPB2	1361	broad.mit.edu	37	13	46656636	46656636	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:46656636G>A	ENST00000181383.4	-	4	340	c.324C>T	c.(322-324)aaC>aaT	p.N108N	CPB2_ENST00000439329.3_Silent_p.N108N|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	108					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TGACTGTGTCGTTGGAAATCT	0.453000													7	109					0	0	0.001984	0	0
GRIA3	2892	broad.mit.edu	37	X	122551330	122551330	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122551330G>C	ENST00000264357.5	+	11	1870	c.1578G>C	c.(1576-1578)atG>atC	p.M526I	GRIA3_ENST00000542149.1_Missense_Mutation_p.M526I|GRIA3_ENST00000541091.1_Missense_Mutation_p.M510I|GRIA3_ENST00000371251.1_Missense_Mutation_p.M526I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M526I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	526					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCCATTCATGAGCCTGGGCA	0.398000													9	217					0	0	0.000978	0	0
KCNH6	81033	broad.mit.edu	37	17	61621693	61621693	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61621693C>G	ENST00000583023.1	+	12	2436	c.2425C>G	c.(2425-2427)Caa>Gaa	p.Q809E	KCNH6_ENST00000581784.1_Missense_Mutation_p.Q720E|KCNH6_ENST00000456941.2_Missense_Mutation_p.Q720E|KCNH6_ENST00000314672.5_Missense_Mutation_p.Q773E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	809					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCACAGCCCCCAAAGCCCTCA	0.617000													5	35					0	0	0.000602	0	0
IP6K3	117283	broad.mit.edu	37	6	33693275	33693275	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:33693275C>G	ENST00000451316.1	-	6	1243	c.708G>C	c.(706-708)atG>atC	p.M236I	IP6K3_ENST00000293756.4_Missense_Mutation_p.M236I	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	236					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CACACTTCCTCATGTGGCGGG	0.632000													4	40					0	0	0.001168	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783657	149783657	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:149783657G>C	ENST00000427880.2	-	1	268	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.I74M|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.I74M|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642000													6	124					0	0	0.001984	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	74					0	0	0.004672	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631978	62631978	+	Missense_Mutation	SNP	G	G	C	rs148172627		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:62631978G>C	ENST00000337910.5	-	10	2223	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S629C|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	629					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACGGAACTTGGAGCATACACT	0.483000													5	115					0	0	0.000602	0	0
GNA15	2769	broad.mit.edu	37	19	3155896	3155896	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:3155896C>G	ENST00000262958.3	+	5	948	c.690C>G	c.(688-690)atC>atG	p.I230M		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	230					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCGCCCTCATCTACCTGGCCT	0.602000													3	48					0	0	0.000248	0	0
WDR12	55759	broad.mit.edu	37	2	203772641	203772641	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:203772641G>C	ENST00000261015.3	-	2	832	c.83C>G	c.(82-84)tCt>tGt	p.S28C	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	28					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GGCAATTTCAGAGGCAGCAGG	0.373000													3	38					0	0	0.000248	0	0
TENM3	55714	broad.mit.edu	37	4	183713749	183713749	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:183713749G>C	ENST00000511685.1	+	26	6047	c.5924G>C	c.(5923-5925)gGa>gCa	p.G1975A	TENM3_ENST00000406950.2_Missense_Mutation_p.G1975A					teneurin transmembrane protein 3																		GAAACAGCAGGAGTCCTAAAG	0.408000													10	187					0	0	0.000673	0	0
KRBA2	124751	broad.mit.edu	37	17	8273686	8273686	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8273686G>C	ENST00000331336.2	-	2	250	c.245C>G	c.(244-246)tCc>tGc	p.S82C	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_5'UTR|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	82	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGGCATCATGGAGAGCTGTAA	0.403000													5	78					0	0	0.000602	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597639	101597639	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101597639G>T	ENST00000310954.6	-	5	1284	c.998C>A	c.(997-999)tCt>tAt	p.S333Y		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	333					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.S333C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAAAGCAAGAAAAAGGTAT	0.368000													4	39					0.00024832	0.00120454	0.000248	1	0
CEP250	11190	broad.mit.edu	37	20	34091328	34091328	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:34091328G>C	ENST00000397527.1	+	30	5851	c.5131G>C	c.(5131-5133)Gag>Cag	p.E1711Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1655Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1711	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAACGGGCAGAGGAAGGGAA	0.582000													6	122					0	0	0.001984	0	0
ITPA	3704	broad.mit.edu	37	20	3194643	3194643	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:3194643G>A	ENST00000380113.3	+	4	394	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Missense_Mutation_p.V51M|ITPA_ENST00000399838.3_Missense_Mutation_p.V27M	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	68					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						ACAGGGGCCCGTGCTGGTTGA	0.627000													6	89					0	0	0.001984	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786876	127786876	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:127786876G>C	ENST00000243253.3	+	11	1402	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.E412D|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.E286D	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	406					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GCCACCGAGAGACCTCCATGG	0.572000											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	0.004672	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887619	32887619	+	RNA	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:32887619G>A	ENST00000399070.3	+	0	2013					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						AAAGCCTTCAGCACATGTACT	0.438000													3	40					0	0	0.000248	0	0
SMAP1	60682	broad.mit.edu	37	6	71562302	71562302	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:71562302G>A	ENST00000370455.3	+	8	972	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SMAP1_ENST00000316999.5_Missense_Mutation_p.D215N|SMAP1_ENST00000370452.3_Missense_Mutation_p.D215N	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	242					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTGAACGATGATCTGGACAT	0.458000													10	134					0	0	0.000673	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377175	104377175	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:104377175G>A	ENST00000535008.1	+	4	623	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	LHFPL3_ENST00000543266.1_Missense_Mutation_p.E167K|LHFPL3_ENST00000401970.2_Missense_Mutation_p.E153K|LHFPL3_ENST00000424859.1_Missense_Mutation_p.E153K			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	153						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGACTCAGATGAAGTAAAACG	0.443000													5	33					0	0	0.000602	0	0
ACACA	31	broad.mit.edu	37	17	35602001	35602001	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:35602001G>C	ENST00000353139.5	-	20	3071	c.2590C>G	c.(2590-2592)Cag>Gag	p.Q864E	ACACA_ENST00000335166.5_Missense_Mutation_p.Q749E|ACACA_ENST00000394406.2_Missense_Mutation_p.Q827E|ACACA_ENST00000360679.3_Missense_Mutation_p.Q769E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	827					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCTGAACCTTGCTG	0.498000													20	295					0	0	0.001523	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453476	22453476	+	RNA	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:22453476C>T	ENST00000390283.2	+	0	268																											GCACGCTCATCTACAGCACAA	0.587000													10	134					0	0	0.000673	0	0
C16orf93	90835	broad.mit.edu	37	16	30771928	30771928	+	Splice_Site	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:30771928C>G	ENST00000543610.1	-	3	1259	c.299_splice	c.e3+1	p.E100_splice	C16orf93_ENST00000545825.1_Splice_Site_p.E100_splice|C16orf93_ENST00000541260.1_Splice_Site_p.E100_splice|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	100										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGTCCCTACTCCCTCATCTCA	0.522000													2	0					0	0	0.004672	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			15	51					0	0	0.003163	0	0
FCAR	2204	broad.mit.edu	37	19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000391726.3_Missense_Mutation_p.V125M|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527000													31	387					0	0	0.002096	0	0
SMG1	23049	broad.mit.edu	37	16	18827770	18827770	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:18827770G>C	ENST00000446231.2	-	58	10568	c.10156C>G	c.(10156-10158)Cag>Gag	p.Q3386E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3387E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3386					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTGCCCTCTGAGTAGACATA	0.413000													4	61					0	0	0.000602	0	0
KDM3A	55818	broad.mit.edu	37	2	86693679	86693679	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:86693679G>A	ENST00000409556.1	+	11	1557	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D398N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D346N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D398N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	398					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GACAAACACTGATCAGGAAAA	0.453000													15	169					0	0	0.003163	0	0
CUL7	9820	broad.mit.edu	37	6	43006181	43006181	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:43006181C>T	ENST00000535468.1	-	25	4935	c.4849G>A	c.(4849-4851)Gaa>Aaa	p.E1617K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1533K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1533					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACCTGGGTTCCTTGCTGCCA	0.567000													4	62					0	0	0.000248	0	0
TREX1	11277	broad.mit.edu	37	3	48508971	48508971	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:48508971G>A	ENST00000296443.9	+	3	1804	c.917G>A	c.(916-918)gGa>gAa	p.G306E	TREX1_ENST00000433541.1_Missense_Mutation_p.G167E|TREX1_ENST00000444177.1_Missense_Mutation_p.G296E|TREX1_ENST00000422277.2_Missense_Mutation_p.G361E|TREX1_ENST00000436480.2_Missense_Mutation_p.G306E|TREX1_ENST00000456089.1_Missense_Mutation_p.G167E			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	361					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACACTGTATGGACTATCCCTG	0.592000													6	59					0	0	0.001984	0	0
TTF2	8458	broad.mit.edu	37	1	117644143	117644143	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:117644143C>T	ENST00000369466.3	+	23	3530	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1162					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTTTGGCATCTAACCTCCTG	0.443000													22	201					0	0	0.002299	0	0
MMP12	4321	broad.mit.edu	37	11	102734890	102734890	+	RNA	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:102734890G>C	ENST00000532855.1	-	0	1394							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTTTAGAGTAGAAGACTGCAT	0.383000													3	38					0	0	0.004672	0	0
ZNF407	55628	broad.mit.edu	37	18	72345521	72345521	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:72345521C>T	ENST00000299687.5	+	1	2546	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	ZNF407_ENST00000582337.1_Missense_Mutation_p.S849L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S849L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S849L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTAACATCTCACGGACGTGT	0.438000													8	74					0	0	0.003080	0	0
LTBP4	8425	broad.mit.edu	37	19	41122917	41122917	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:41122917G>A	ENST00000308370.7	+	23	3136	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Missense_Mutation_p.G979R|LTBP4_ENST00000204005.9_Missense_Mutation_p.G1009R|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1046	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGGGGGCGGATGCCAGGG	0.602000													8	49					0	0	0.004482	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554308	135554308	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:135554308G>C	ENST00000372146.4	+	2	1866	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	434					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CAGACAAACAGAATGGAACAG	0.453000													4	102					0	0	0.000248	0	0
FAT1	2195	broad.mit.edu	37	4	187630459	187630459	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187630459C>G	ENST00000441802.2	-	2	732	c.523G>C	c.(523-525)Gat>Cat	p.D175H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	175	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTCTGCATCCGTGGCGCTG	0.433000										HNSCC(5;0.00058)			20	162					0	0	0.001523	0	0
SLC7A11	23657	broad.mit.edu	37	4	139153472	139153472	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:139153472G>C	ENST00000280612.5	-	3	748	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	157					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATTTCACATTGAATAAAAAAT	0.368000													10	68					0	0	0.000443	0	0
BAZ2B	29994	broad.mit.edu	37	2	160229587	160229587	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:160229587C>T	ENST00000392783.2	-	27	4677	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	BAZ2B_ENST00000355831.2_Silent_p.G1360G|BAZ2B_ENST00000392782.1_Silent_p.G1358G|BAZ2B_ENST00000343439.5_Silent_p.G1294G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTACAAAAATCCCCCCACATT	0.403000													4	49					0	0	0.000248	0	0
SLC45A2	51151	broad.mit.edu	37	5	33963899	33963899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:33963899G>C	ENST00000382102.3	-	3	842	c.785C>G	c.(784-786)tCa>tGa	p.S262*	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.S262*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.S203*|SLC45A2_ENST00000345083.5_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	262					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTCCATCTGATGACAATGG	0.443000													6	117					0	0	0.001984	0	0
ZNF836	162962	broad.mit.edu	37	19	52658816	52658816	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:52658816G>C	ENST00000322146.8	-	5	2641	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S707*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGTTTTGAACTTTGGAT	0.398000													11	59					0	0	0.001368	0	0
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343000													5	58					0	0	0.000602	0	0
CEP85L	387119	broad.mit.edu	37	6	118812872	118812872	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:118812872C>T	ENST00000368491.3	-	6	2035	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	CEP85L_ENST00000360290.3_Missense_Mutation_p.E370K|CEP85L_ENST00000392500.3_Missense_Mutation_p.E475K|CEP85L_ENST00000368488.5_Missense_Mutation_p.E475K|CEP85L_ENST00000419517.2_Missense_Mutation_p.E472K	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	472						centrosome											TTCTTCTTCTCTTCACTAAAT	0.338000													4	21					0	0	0.000248	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728422	50728422	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:50728422C>T	ENST00000449103.1	-	3	732	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E198K			O15031	PLXB2_HUMAN	plexin B2	198	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTAGGCTTCAAAGGCCTCC	0.607000													5	57					0	0	0.000602	0	0
CCNF	899	broad.mit.edu	37	16	2495573	2495573	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:2495573G>A	ENST00000397066.4	+	10	1132	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	348	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGGTGCCGCGGTACAGGC	0.652000													5	51					0	0	0.001168	0	0
TTC14	151613	broad.mit.edu	37	3	180321060	180321060	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:180321060G>A	ENST00000412756.2	+	3	504	c.435G>A	c.(433-435)ttG>ttA	p.L145L	TTC14_ENST00000382584.4_Silent_p.L145L|TTC14_ENST00000296015.4_Silent_p.L145L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	145	S1 motif.						RNA binding	p.L145F(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCATGGTGTTGATCTGTTTAG	0.373000													5	88					0	0	0.001168	0	0
XKRX	402415	broad.mit.edu	37	X	100177939	100177939	+	Silent	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:100177939C>G	ENST00000328526.5	-	2	1051	c.486G>C	c.(484-486)ctG>ctC	p.L162L	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000372956.2_Silent_p.L149L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	149						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCCATTCTATCAGCACCTCCT	0.547000													6	157					0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238283539	238283539	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:238283539G>A	ENST00000295550.4	-	8	3647	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	COL6A3_ENST00000346358.4_Silent_p.V865V|COL6A3_ENST00000353578.4_Silent_p.V859V|COL6A3_ENST00000392004.3_Silent_p.V859V|COL6A3_ENST00000347401.3_Silent_p.V864V|COL6A3_ENST00000392003.2_Silent_p.V658V|COL6A3_ENST00000472056.1_Silent_p.V458V|COL6A3_ENST00000409809.1_Silent_p.V859V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1065	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCCACGCGGACCCGGTCCT	0.592000													9	79					0	0	0.004482	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64145632	64145632	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:64145632C>T	ENST00000295902.6	-	4	965	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G183E	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	127						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAAATAGCTCCTGTCATGGT	0.483000													15	151					0	0	0.004007	0	0
MYRF	745	broad.mit.edu	37	11	61551813	61551813	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:61551813G>C	ENST00000278836.5	+	25	3352	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	MYRF_ENST00000265460.5_Missense_Mutation_p.E1046Q|MYRF_ENST00000389602.4_Missense_Mutation_p.E472Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		ACCATGTGAGGAGGGGAGCCT	0.622000													4	50					0	0	0.000248	0	0
CCKAR	886	broad.mit.edu	37	4	26490898	26490898	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:26490898G>T	ENST00000295589.3	-	2	515	c.321C>A	c.(319-321)ttC>ttA	p.F107L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	107					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TCCCGAAGATGAAATCCTTGA	0.562000													7	115					8.12818e-05	0.00039824	0.001984	1	0
TGFBR1	7046	broad.mit.edu	37	9	101910003	101910003	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:101910003G>C	ENST00000374994.4	+	8	1440	c.1323G>C	c.(1321-1323)atG>atC	p.M441I	TGFBR1_ENST00000552516.1_Missense_Mutation_p.M445I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.M372I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.M364I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	441	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTGAAGAAATGAGAAAAGTTG	0.323000													7	55					0	0	0.003080	0	0
PRLHR	2834	broad.mit.edu	37	10	120353832	120353832	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:120353832C>T	ENST00000239032.2	-	2	1063	c.925G>A	c.(925-927)Gac>Aac	p.D309N	PRLHR_ENST00000369169.1_Missense_Mutation_p.D309N	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	309					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGTAAGGGTCGATGGCGTGG	0.632000													5	69					0	0	0.001168	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	34					0	0	0.000602	0	0
CMYA5	202333	broad.mit.edu	37	5	79026056	79026056	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:79026056G>C	ENST00000446378.2	+	2	1499	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	490	Glu-rich.					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)		AAACATGCTTGAGCCATCCAT	0.458000													15	125					0	0	0.003163	0	0
SRRT	51593	broad.mit.edu	37	7	100482943	100482943	+	Silent	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100482943C>G	ENST00000388793.4	+	10	1486	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	SRRT_ENST00000347433.4_Silent_p.L423L|SRRT_ENST00000432932.1_Silent_p.L422L|SRRT_ENST00000457580.2_Silent_p.L423L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	423					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCTGCTCCCTCTTCATGCGCA	0.622000													6	61					0	0	0.001168	0	0
LRIG2	9860	broad.mit.edu	37	1	113657399	113657399	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:113657399A>G	ENST00000361127.4	+	15	2629	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	811						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CATTGTCATCATTGTTGTGGT	0.423000													14	95					0	0	0.002450	0	0
ANXA9	8416	broad.mit.edu	37	1	150956843	150956843	+	Silent	SNP	C	C	T	rs150030788		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:150956843C>T	ENST00000368947.4	+	6	830	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	118					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	p.D118D(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCAGTTTGACGCCCAGGAAT	0.552000													8	115					0	0	0.003080	0	0
GPR156	165829	broad.mit.edu	37	3	119885902	119885902	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:119885902C>T	ENST00000464295.1	-	10	2867	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	GPR156_ENST00000315843.3_Missense_Mutation_p.D808N|GPR156_ENST00000461057.1_Missense_Mutation_p.D804N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	808						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTTTCAAGTCATCTTTGAAG	0.537000													9	300					0	0	0.000443	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135621	32135621	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:32135621C>G	ENST00000312561.4	+	4	2146	c.1732C>G	c.(1732-1734)Caa>Gaa	p.Q578E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ATCAAAAATTCAAAATGAAAA	0.348000													5	31					0	0	0.000602	0	0
SPTB	6710	broad.mit.edu	37	14	65234494	65234494	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:65234494C>G	ENST00000389722.3	-	29	6159	c.6106G>C	c.(6106-6108)Gac>Cac	p.D2036H	SPTB_ENST00000542895.1_Missense_Mutation_p.D2036H|SPTB_ENST00000389721.5_Missense_Mutation_p.D2036H|SPTB_ENST00000556626.1_Missense_Mutation_p.D2036H|SPTB_ENST00000389720.3_Missense_Mutation_p.D2036H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2036					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCCAAAGTCCCCGCTGGCC	0.617000													4	74					0	0	0.000248	0	0
CACNB2	783	broad.mit.edu	37	10	18827254	18827254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:18827254C>G	ENST00000396576.2	+	12	1784	c.1283C>G	c.(1282-1284)tCa>tGa	p.S428*	CACNB2_ENST00000282343.8_Nonsense_Mutation_p.S455*|CACNB2_ENST00000324631.7_Nonsense_Mutation_p.S483*|CACNB2_ENST00000377328.1_Nonsense_Mutation_p.S233*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.S431*|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Nonsense_Mutation_p.S435*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.S459*|CACNB2_ENST00000377319.3_Nonsense_Mutation_p.S390*|CACNB2_ENST00000377329.4_Nonsense_Mutation_p.S429*	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	483					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)	TTAGCCACTTCAAGTCTGCCT	0.478000													9	266					0	0	0.000673	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561983	32561983	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:32561983A>G	ENST00000345122.3	+	2	2423	c.2108A>G	c.(2107-2109)cAg>cGg	p.Q703R	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q703R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	703					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGGCTAATCAGAGAGATTCC	0.373000													4	49					0	0	0.000248	0	0
HEPH	9843	broad.mit.edu	37	X	65486458	65486458	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:65486458C>T	ENST00000519389.1	+	21	3762	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	HEPH_ENST00000419594.1_Missense_Mutation_p.R952C|HEPH_ENST00000343002.2_Missense_Mutation_p.R1141C|HEPH_ENST00000336279.5_Missense_Mutation_p.R874C|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144C|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143C			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498000													5	48					0	0	0.000602	0	0
NRG1	3084	broad.mit.edu	37	8	32621346	32621346	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:32621346C>T	ENST00000338921.4	+	13	1890	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	NRG1_ENST00000519301.1_Missense_Mutation_p.S400L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S447L|NRG1_ENST00000356819.4_Missense_Mutation_p.S455L|NRG1_ENST00000287840.5_Missense_Mutation_p.S450L|NRG1_ENST00000405005.2_Missense_Mutation_p.S450L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.S293L|NRG1_ENST00000287845.5_Missense_Mutation_p.S421L			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCGCCCCCTTCGGAAATGTCT	0.562000													11	124					0	0	0.000673	0	0
DTX2	113878	broad.mit.edu	37	7	76109854	76109854	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:76109854G>T	ENST00000324432.5	+	4	538	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	DTX2_ENST00000307569.8_Missense_Mutation_p.V10L|DTX2_ENST00000413936.2_Missense_Mutation_p.V10L|DTX2_ENST00000446820.2_Missense_Mutation_p.V10L|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.V10L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	10	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCTTCCCTGGTGCAGGTGTA	0.657000													4	31					0.00024832	0.00120454	0.000248	1	0
SH2D2A	9047	broad.mit.edu	37	1	156779022	156779022	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:156779022G>A	ENST00000392306.2	-	7	1144	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	SH2D2A_ENST00000368199.3_Silent_p.S325S|SH2D2A_ENST00000368198.3_Silent_p.S307S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	325	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTGGACCAGCTCTTCCGTA	0.612000													17	226					0	0	0.000566	0	0
OSCP1	127700	broad.mit.edu	37	1	36909632	36909632	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:36909632C>T	ENST00000356637.5	-	2	178	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	OSCP1_ENST00000354267.3_Intron|OSCP1_ENST00000315643.9_Missense_Mutation_p.E39K|OSCP1_ENST00000235532.5_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	39					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCTGTCCATTCATCTACATGA	0.418000													10	129					0	0	0.001855	0	0
NAB1	4664	broad.mit.edu	37	2	191524404	191524404	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:191524404G>A	ENST00000337386.5	+	4	963	c.502G>A	c.(502-504)Gag>Aag	p.E168K	NAB1_ENST00000357215.5_Missense_Mutation_p.E168K|NAB1_ENST00000409581.1_Missense_Mutation_p.E168K|NAB1_ENST00000409641.1_Missense_Mutation_p.E168K	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	168					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCATGCCACTGAGAGCGAGCA	0.627000													7	40					0	0	0.003080	0	0
JADE3	9767	broad.mit.edu	37	X	46887308	46887308	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:46887308G>A	ENST00000218343.4	+	6	788	c.490G>A	c.(490-492)Gat>Aat	p.D164N	PHF16_ENST00000397189.1_Missense_Mutation_p.D164N	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		164					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGGGCCAGTTGATGAGAATCT	0.458000													8	61					0	0	0.000673	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074139	70074139	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:70074139G>A	ENST00000446444.1	-	3	940	c.932C>T	c.(931-933)tCa>tTa	p.S311L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	311					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTTATCACTGACCCCAGAGA	0.418000													19	189					0	0	0.001216	0	0
MYLK	4638	broad.mit.edu	37	3	123452808	123452808	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:123452808G>A	ENST00000360772.3	-	11	1413	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	MYLK_ENST00000475616.1_Silent_p.I345I|MYLK_ENST00000360304.3_Silent_p.I345I|MYLK_ENST00000359169.1_Silent_p.I345I|MYLK_ENST00000346322.5_Silent_p.I345I			Q15746	MYLK_HUMAN	myosin light chain kinase	345					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGCAGGGTGATGGAGCTGG	0.637000													7	116					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129419471	129419471	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:129419471C>T	ENST00000421865.2	+	4	599	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	184	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAATATTTATCCCCGCACTGG	0.448000													10	68					0	0	0.000978	0	0
DALRD3	55152	broad.mit.edu	37	3	49053656	49053656	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:49053656C>G	ENST00000440857.1	-	10	1465	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	DALRD3_ENST00000341949.4_Missense_Mutation_p.E422Q|DALRD3_ENST00000441576.2_Missense_Mutation_p.E422Q|DALRD3_ENST00000395462.4_Missense_Mutation_p.E255Q|DALRD3_ENST00000313778.5_Missense_Mutation_p.E255Q			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	422					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	p.E255*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGACCTTGTTCCATACTACAC	0.502000													6	67					0	0	0.001168	0	0
MKRN1	23608	broad.mit.edu	37	7	140154936	140154936	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:140154936C>G	ENST00000255977.2	-	7	1419	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q|MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	399							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.E399Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCTGTGGCTCCTCTCTACGG	0.488000													12	158					0	0	0.000978	0	0
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373000										HNSCC(4;0.00038)			7	40					0	0	0.003080	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669278	26669278	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:26669278C>G	ENST00000226225.2	+	6	791	c.524C>G	c.(523-525)tCt>tGt	p.S175C	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.S71C|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	175					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTCAGCAACTCTGACGACCAC	0.572000													4	31					0	0	0.000248	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													4	30					0	0	0.001168	0	0
RB1	5925	broad.mit.edu	37	13	49033886	49033886	+	Missense_Mutation	SNP	G	G	C	rs137853295		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:49033886G>C	ENST00000267163.4	+	20	2161	c.2023G>C	c.(2023-2025)Gaa>Caa	p.E675Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	675	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGCACCCAGAATTAGAACA	0.423000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	87					0	0	0.003080	0	0
SIN3A	25942	broad.mit.edu	37	15	75668128	75668128	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:75668128C>G	ENST00000394947.3	-	20	3783	c.3469G>C	c.(3469-3471)Gag>Cag	p.E1157Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.E1157Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.E1157Q	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1157					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCACATTCTCCATGGTCTTC	0.463000													6	131					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126239528	126239528	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:126239528C>G	ENST00000394329.3	+	1	1975	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	654	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAAGCCTTCTACTCCCTGT	0.517000													8	59					0	0	0.004482	0	0
OR4M1	441670	broad.mit.edu	37	14	20248859	20248859	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:20248859C>T	ENST00000315957.4	+	1	459	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTGCTATCTGCCGACCCC	0.507000													19	512					0	0	0.000958	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	79					0	0	0.000248	0	0
RAC1	5879	broad.mit.edu	37	7	6431563	6431563	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6431563A>G	ENST00000348035.4	+	3	329	c.116A>G	c.(115-117)aAt>aGt	p.N39S	RAC1_ENST00000356142.4_Missense_Mutation_p.N39S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	39					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGCTTTGACAATTATTCTGCC	0.438000													4	64					0	0	0.000248	0	0
TRHDE	29953	broad.mit.edu	37	12	72667122	72667122	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:72667122G>A	ENST00000261180.4	+	1	660	c.564G>A	c.(562-564)gcG>gcA	p.A188A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	188					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCGAGTGGCGGTGGAGAAAG	0.627000													10	65					0	0	0.000443	0	0
TTBK2	146057	broad.mit.edu	37	15	43122171	43122171	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:43122171G>A	ENST00000267890.6	-	5	505	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	TTBK2_ENST00000567274.1_Missense_Mutation_p.H133Y|TTBK2_ENST00000567840.1_Missense_Mutation_p.H133Y	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	133	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCCACAGAATGAATGCTTTCA	0.458000													5	49					0	0	0.003080	0	0
HMGXB4	10042	broad.mit.edu	37	22	35658315	35658315	+	Splice_Site	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:35658315G>C	ENST00000216106.5	+	2	60		c.e2-1		HMGXB4_ENST00000444518.2_Splice_Site	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4						endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTTTCTCAGACCTGGTCCT	0.512000													11	119					0	0	0.000673	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993500	140993500	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:140993500G>C	ENST00000285879.4	+	4	596	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	104							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCTCCTGAGGGGAAGGA	0.562000										HNSCC(15;0.026)			11	130					0	0	0.000673	0	0
CYP2R1	120227	broad.mit.edu	37	11	14899669	14899669	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14899669C>A	ENST00000532378.1	-	6	1660	c.806G>T	c.(805-807)tGa>tTa	p.*269L	CYP2R1_ENST00000334636.5_Nonstop_Mutation_p.*502L			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	0					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CAGGCAGTTTCAGCGTCTTTC	0.418000													9	89					0.000442599	0.00213631	0.000443	1	0
FAT1	2195	broad.mit.edu	37	4	187516868	187516868	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516868G>C	ENST00000441802.2	-	26	13322	c.13113C>G	c.(13111-13113)ttC>ttG	p.F4371L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4371					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTCGGACTGGAAGGAGCTCA	0.512000										HNSCC(5;0.00058)			9	90					0	0	0.000443	0	0
NBPF1	55672	broad.mit.edu	37	1	16907249	16907249	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:16907249T>C	ENST00000430580.2	-	16	2469	c.1582A>G	c.(1582-1584)Att>Gtt	p.I528V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	528	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGGGAGAATGTTTACAGCA	0.423000													20	833					0	0	0.000958	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357106	36357106	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:36357106G>A	ENST00000360202.5	+	15	2037	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	KIRREL2_ENST00000592409.1_Silent_p.L578L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.L593L|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	613					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGAGCCTGAGCCTTGGCG	0.607000													12	98					0	0	0.001368	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144560	55144560	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:55144560C>G	ENST00000257290.5	+	15	2365	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.F438L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	678	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F678L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTATTGCTTCTATGGAGATT	0.433000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	88					0	0	0.001168	0	0
MITD1	129531	broad.mit.edu	37	2	99797402	99797402	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:99797402C>T	ENST00000289359.2	-	1	119	c.43G>A	c.(43-45)Gca>Aca	p.A15T	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	15	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ACAGTGGCTGCAGCTGTGCTC	0.587000													5	57					0	0	0.000602	0	0
RASSF1	11186	broad.mit.edu	37	3	50369058	50369058	+	Missense_Mutation	SNP	C	C	T	rs148222115	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:50369058C>T	ENST00000359365.4	-	4	798	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	RASSF1_ENST00000327761.3_Missense_Mutation_p.R161Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R235Q|RASSF1_ENST00000395126.3_Missense_Mutation_p.R80Q	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	235	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAGAACTTTCGCAGCAGGGC	0.597000													11	77					0	0	0.000673	0	0
PDCD11	22984	broad.mit.edu	37	10	105203734	105203734	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:105203734C>G	ENST00000369797.3	+	34	5281	c.5187C>G	c.(5185-5187)atC>atG	p.I1729M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1729					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGTGTGGATCAAATACGGCG	0.597000													9	94					0	0	0.004482	0	0
SOS1	6654	broad.mit.edu	37	2	39234174	39234174	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234174C>G	ENST00000426016.1	-	17	2757	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	SOS1_ENST00000402219.2_Missense_Mutation_p.E891Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E891Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	891	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAACCTACCTCAAATGTGTGG	0.299000									Noonan syndrome				3	87					0	0	0.004672	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													4	55					0	0	0.000248	0	0
CDH5	1003	broad.mit.edu	37	16	66423424	66423424	+	Splice_Site	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66423424G>C	ENST00000341529.3	+	5	928	c.781_splice	c.e5+1	p.Q260_splice	CDH5_ENST00000563425.2_Splice_Site_p.Q260_splice	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	260	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCACCCAGAGTGAGCCCC	0.602000													3	40					0	0	0.004672	0	0
MYADM	91663	broad.mit.edu	37	19	54377026	54377026	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:54377026C>G	ENST00000391769.2	+	3	523	c.243C>G	c.(241-243)atC>atG	p.I81M	MYADM_ENST00000336967.3_Missense_Mutation_p.I81M|MYADM_ENST00000391768.2_Missense_Mutation_p.I81M|MYADM_ENST00000391770.4_Missense_Mutation_p.I81M|MYADM_ENST00000391771.1_Missense_Mutation_p.I81M	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	81	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGACCCTGATCATCCTCATCG	0.642000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	123					0	0	0.003080	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571943	30571943	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:30571943C>T	ENST00000376511.2	-	14	1902	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	450	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.L450L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TATCATGGCTCAGACGCCGCG	0.562000													11	158					0	0	0.001368	0	0
FAM83G	644815	broad.mit.edu	37	17	18881189	18881189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:18881189G>C	ENST00000388995.6	-	5	2013	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*	FAM83G_ENST00000585154.2_Nonsense_Mutation_p.S597*|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.S597*|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	597										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGAGCTGCCTGAGTGGCTGTC	0.642000													11	68					0	0	0.000978	0	0
SRRT	51593	broad.mit.edu	37	7	100483972	100483972	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100483972C>G	ENST00000388793.4	+	13	1780	c.1560C>G	c.(1558-1560)atC>atG	p.I520M	SRRT_ENST00000347433.4_Missense_Mutation_p.I521M|SRRT_ENST00000432932.1_Missense_Mutation_p.I520M|SRRT_ENST00000457580.2_Missense_Mutation_p.I521M	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	521					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCAACGACATCAAGCTGGCGG	0.617000													7	41					0	0	0.001984	0	0
ARMC4	55130	broad.mit.edu	37	10	28229719	28229719	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:28229719A>T	ENST00000305242.5	-	13	1851	c.1759T>A	c.(1759-1761)Tgt>Agt	p.C587S	ARMC4_ENST00000537576.1_Missense_Mutation_p.C279S|ARMC4_ENST00000545014.1_Missense_Mutation_p.C112S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	587							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCATGTGCACAGTCTAGTAGA	0.443000													6	66					0	0	0.003080	0	0
NR3C1	2908	broad.mit.edu	37	5	142780167	142780178	+	In_Frame_Del	DEL	TGGACAGATCTG	TGGACAGATCTG	-			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:142780167_142780178delTGGACAGATCTG	ENST00000343796.2	-	2	1220_1231	c.227_238delCAGATCTGTCCA	c.(226-240)caa>c	p.PDLSK76del	NR3C1_ENST00000504572.1_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000503201.1_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000415690.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000394464.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000394466.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_In_Frame_Del_p.PDLSK76del|NR3C1_ENST00000231509.3_In_Frame_Del_p.PDLSK76del	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GAAACTGCTTTGGACAGATCTGGCTGCTGCGC	0.491													13	166	---	---	---	---					
RP11-273B20.3	0	broad.mit.edu	37	12	7338794	7338794	+	RNA	DEL	G	G	-	rs34548221		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:7338794delG	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							cctgttgagaggggggactga	0.502													3	4	---	---	---	---					
RP11-697E22.2	0	broad.mit.edu	37	17	36003614	36003614	+	RNA	DEL	T	T	-	rs10543338		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:36003614delT	ENST00000586163.1	+	0	590				RP11-697E22.2_ENST00000586950.1_RNA																							ATTAtttatcttttttttttt	0.507													2	4	---	---	---	---