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
ZNF642	339559	broad.mit.edu	37	1	40947451	40947451	+	Silent	SNP	T	T	C			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:40947451T>C	uc001cfo.2	+	3	438	c.144T>C	c.(142-144)GAT>GAC	p.D48D	ZNF642_uc009vwb.2_Silent_p.D48D|ZNF642_uc010ojk.1_Silent_p.D48D	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TGTCTCAGGATGCTGAGGACG	0.498000												
CPT2	1376	broad.mit.edu	37	1	53676469	53676469	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:53676469G>A	uc001cvb.3	+	4	1638	c.1123G>A	c.(1123-1125)GGT>AGT	p.G375S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	375	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACTCTTGGGGTGATGGTGT	0.498000												
DPYD	1806	broad.mit.edu	37	1	97981294	97981294	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:97981294G>T	uc001drv.2	-	13	1865	c.1728C>A	c.(1726-1728)TTC>TTA	p.F576L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	576					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TATCAAGAGAGAAAGTTTTGG	0.333000												
NFASC	23114	broad.mit.edu	37	1	204951139	204951139	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:204951139G>A	uc001hbj.2	+	21	2789	c.2461G>A	c.(2461-2463)GGA>AGA	p.G821R	NFASC_uc010pra.1_Missense_Mutation_p.G817R|NFASC_uc001hbi.2_Missense_Mutation_p.G817R|NFASC_uc010prb.1_Missense_Mutation_p.G832R|NFASC_uc010prc.1_Missense_Mutation_p.G388R|NFASC_uc001hbk.1_Missense_Mutation_p.G627R|NFASC_uc001hbl.1_Missense_Mutation_p.G71R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	821	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGGTTACTCCGGAGAAGATTG	0.612000												
OBSCN	84033	broad.mit.edu	37	1	228474547	228474547	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:228474547C>T	uc009xez.1	+	35	9395	c.9351C>T	c.(9349-9351)TGC>TGT	p.C3117C	OBSCN_uc001hsn.2_Silent_p.C3117C|OBSCN_uc001hsq.1_Silent_p.C373C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3117	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGGTGTGCGAGACCAGCA	0.642000												
VENTX	27287	broad.mit.edu	37	10	135053262	135053262	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr10:135053262C>T	uc010quy.1	+	2	335	c.324C>T	c.(322-324)GGC>GGT	p.G108G		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	108	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTTGGAGGGCGTCTTCCAGC	0.557000												
IGF2	3481	broad.mit.edu	37	11	2154854	2154854	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:2154854C>T	uc009yde.2	-	3	302	c.199G>A	c.(199-201)GTT>ATT	p.V67I	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.V67I|IGF2_uc009ydf.2_Missense_Mutation_p.V123I|IGF2_uc001lvh.2_Missense_Mutation_p.V67I|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	67	A.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CACTCCTCAACGATGCCACGG	0.667000												
B3GAT3	26229	broad.mit.edu	37	11	62384806	62384806	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:62384806C>T	uc001ntw.2	-	3	300	c.271G>A	c.(271-273)GCA>ACA	p.A91T	B3GAT3_uc009ynz.2_Missense_Mutation_p.A84T|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.A91T	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	91	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						ACCAGCTCTGCCTTCTGTACC	0.637000												
C12orf63	374467	broad.mit.edu	37	12	97082748	97082748	+	Silent	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr12:97082748G>A	uc001tet.1	+	10	1422	c.1344G>A	c.(1342-1344)GCG>GCA	p.A448A		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	448										skin(6)|ovary(1)	7						TTTTGTCTGCGTTACTCTTTC	0.279000												
SPG20	23111	broad.mit.edu	37	13	36909408	36909408	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr13:36909408T>C	uc001uvn.2	-	3	830	c.560A>G	c.(559-561)TAT>TGT	p.Y187C	SPG20_uc010ten.1_Missense_Mutation_p.Y187C|SPG20_uc001uvm.2_Missense_Mutation_p.Y187C|SPG20_uc001uvo.2_Missense_Mutation_p.Y187C|SPG20_uc001uvq.2_Missense_Mutation_p.Y187C|SPG20_uc001uvp.2_Missense_Mutation_p.Y187C	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	187					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATCTGTTCCATAGGATACAGT	0.478000												
MDGA2	161357	broad.mit.edu	37	14	47389321	47389321	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:47389321G>T	uc001wwj.3	-	10	2121	c.1925C>A	c.(1924-1926)CCA>CAA	p.P642Q	MDGA2_uc001wwi.3_Missense_Mutation_p.P413Q|MDGA2_uc010ani.2_Missense_Mutation_p.P202Q	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	642					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CTGCCATACTGGATTGTAGGT	0.408000												
SERPINA9	327657	broad.mit.edu	37	14	94936109	94936109	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:94936109C>T	uc001ydf.2	-	2	284	c.123G>A	c.(121-123)CCG>CCA	p.P41P	SERPINA9_uc001yde.2_Silent_p.P41P|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Silent_p.P41P|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	23				P -> L (in Ref. 1; AAO65242/AAO65243 and 3; AAQ89063).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGCATTGGCCGGGGACACAC	0.517000												
KLC1	3831	broad.mit.edu	37	14	104142035	104142035	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:104142035A>G	uc001yno.2	+	11	1629	c.1321A>G	c.(1321-1323)AAG>GAG	p.K441E	KLC1_uc010tyd.1_Missense_Mutation_p.K600E|KLC1_uc010tye.1_Missense_Mutation_p.K437E|KLC1_uc001ynm.1_Missense_Mutation_p.K441E|KLC1_uc001ynn.1_Missense_Mutation_p.K435E|KLC1_uc010tyf.1_Missense_Mutation_p.K441E|KLC1_uc001ynp.1_RNA|KLC1_uc001ynr.1_5'UTR|KLC1_uc010awu.1_RNA|KLC1_uc001ynq.1_5'UTR|KLC1_uc001yns.2_RNA	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	441					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGAAAGCAAAAGGATGGGAC	0.328000												
JAG2	3714	broad.mit.edu	37	14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	rs9972231	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:105615648C>T	uc001yqg.2	-	13	2016	c.1612G>A	c.(1612-1614)GAC>AAC	p.D538N	JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Missense_Mutation_p.D500N	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	538	EGF-like 9.|Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.D538N(1)		lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622000												
VPS13C	54832	broad.mit.edu	37	15	62204164	62204164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:62204164G>A	uc002agz.2	-	63	8664	c.8590C>T	c.(8590-8592)CGA>TGA	p.R2864*	VPS13C_uc002aha.2_Nonsense_Mutation_p.R2821*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R2864*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R2821*|VPS13C_uc002ahd.1_Nonsense_Mutation_p.R241*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2864					protein localization					ovary(2)	2						GTAACTATTCGTGAAAGGTTG	0.363000												
IRF8	3394	broad.mit.edu	37	16	85948095	85948095	+	Silent	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr16:85948095G>A	uc002fjh.2	+	6	627	c.570G>A	c.(568-570)ACG>ACA	p.T190T	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	190					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				CGCTGGTGACGGGGTACACCA	0.587000												
SMYD4	114826	broad.mit.edu	37	17	1690239	1690239	+	Silent	SNP	G	G	A	rs140685899		TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:1690239G>A	uc002ftm.3	-	7	1917	c.1749C>T	c.(1747-1749)GCC>GCT	p.A583A	SMYD4_uc002ftn.1_Silent_p.A438A	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	583							zinc ion binding			skin(3)|kidney(2)	5						GCTGCCTTTCGGCAACCCCCA	0.537000												
TANC2	26115	broad.mit.edu	37	17	61417589	61417589	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:61417589G>A	uc002jal.3	+	10	1504	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	TANC2_uc010wpe.1_Missense_Mutation_p.R404Q	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	494							binding			ovary(2)	2						CAGCTTCTTCGGGAACCTCAC	0.547000												
SMAD4	4089	broad.mit.edu	37	18	48593397	48593397	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:48593397T>G	uc010xdp.1	+	10	1686	c.1148T>G	c.(1147-1149)ATA>AGA	p.I383R	SMAD4_uc002lfb.3_Missense_Mutation_p.I228R	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	383	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.I383K(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGTTGCACATAGGCAAAGGT	0.343000									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
CDH7	1005	broad.mit.edu	37	18	63477134	63477134	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:63477134C>T	uc002ljz.2	+	3	730	c.405C>T	c.(403-405)CCC>CCT	p.P135P	CDH7_uc002lka.2_Silent_p.P135P|CDH7_uc002lkb.2_Silent_p.P135P	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	135	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CCGTGGAGCCCGAGTCGGAGT	0.527000												
CDH19	28513	broad.mit.edu	37	18	64172357	64172357	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:64172357G>A	uc002lkc.1	-	12	2149	c.2011C>T	c.(2011-2013)CGG>TGG	p.R671W	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	671	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GTGGTTTTCCGAGTCTTGCGT	0.468000												
MUC16	94025	broad.mit.edu	37	19	9086045	9086045	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:9086045T>C	uc002mkp.2	-	1	5974	c.5770A>G	c.(5770-5772)ACT>GCT	p.T1924A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1924	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTGGAAGTCAAAGTGGTC	0.478000												
COL5A3	50509	broad.mit.edu	37	19	10097410	10097410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:10097410G>A	uc002mmq.1	-	28	2256	c.2170C>T	c.(2170-2172)CAG>TAG	p.Q724*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	724	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTCTCCCCCTGGAGGCCCCGG	0.547000												
GCDH	2639	broad.mit.edu	37	19	13008171	13008171	+	Silent	SNP	A	A	G	rs2229460	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:13008171A>G	uc002mvq.2	+	10	1088	c.1011A>G	c.(1009-1011)GCA>GCG	p.A337A	GCDH_uc010xms.1_Silent_p.A304A|GCDH_uc002mvp.2_Silent_p.A337A|GCDH_uc010xmt.1_Silent_p.A171A|GCDH_uc010xmu.1_Silent_p.A293A	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	337					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AGAAGCTGGCAGACATGCTCA	0.617000												
EMR3	84658	broad.mit.edu	37	19	14749084	14749084	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:14749084C>T	uc002mzi.3	-	11	1465	c.1317G>A	c.(1315-1317)CTG>CTA	p.L439L	EMR3_uc010dzp.2_Silent_p.L387L|EMR3_uc010xnv.1_Silent_p.L313L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	439	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						GCACACCCTCCAGCAGCATCC	0.557000												
UNC13A	23025	broad.mit.edu	37	19	17760371	17760371	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:17760371C>T	uc002nhd.2	-	14	1729	c.1729G>A	c.(1729-1731)GAC>AAC	p.D577N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	489					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GGCATGCTGTCGATGATGATG	0.507000												
DLL3	10683	broad.mit.edu	37	19	39998562	39998562	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:39998562C>T	uc002olx.2	+	8	1824	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	589	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGGTAGCGACGCCCCTTTTC	0.557000												
NLRP7	199713	broad.mit.edu	37	19	55451629	55451629	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:55451629C>T	uc002qih.3	-	4	634	c.558G>A	c.(556-558)ACG>ACA	p.T186T	NLRP7_uc002qig.3_Silent_p.T186T|NLRP7_uc002qii.3_Silent_p.T186T|NLRP7_uc010esk.2_Silent_p.T186T|NLRP7_uc010esl.2_Silent_p.T214T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	186	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TTTTGGCCAGCGTGGTTTTCC	0.577000												
ZNF667	63934	broad.mit.edu	37	19	56953317	56953317	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:56953317C>T	uc002qnd.2	-	5	1209	c.1047G>A	c.(1045-1047)CAG>CAA	p.Q349Q	ZNF667_uc010etl.2_Silent_p.Q131Q|ZNF667_uc002qne.2_Silent_p.Q349Q|ZNF667_uc010etm.2_Silent_p.Q292Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	349	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTGAATTCTCTGGTGAAGCA	0.378000												
PNPT1	87178	broad.mit.edu	37	2	55907854	55907854	+	Silent	SNP	T	T	C			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:55907854T>C	uc002rzf.2	-	7	611	c.558A>G	c.(556-558)GGA>GGG	p.G186G	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	186					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACCAACAGGTCCATTCCAAG	0.323000												
GPR45	11250	broad.mit.edu	37	2	105858363	105858363	+	Silent	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:105858363G>A	uc002tco.1	+	1	164	c.48G>A	c.(46-48)CTG>CTA	p.L16L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	16	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						ACCTGCTGCTGAACACCAGCA	0.617000												
ACVR1	90	broad.mit.edu	37	2	158594066	158594066	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:158594066C>T	uc002tzm.3	-	12	1846	c.1507G>A	c.(1507-1509)GAC>AAC	p.D503N	ACVR1_uc002tzn.3_Missense_Mutation_p.D503N|ACVR1_uc010fog.2_Missense_Mutation_p.D503N	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	503	Cytoplasmic (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTCAATTTGTCGAGGGAATTA	0.418000												
COL3A1	1281	broad.mit.edu	37	2	189856394	189856394	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:189856394G>T	uc002uqj.1	+	13	1015	c.898_splice	c.e13-1	p.G300_splice	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTACTCTGTAGGGTCCAAGAG	0.458000												
UGT1A1	54658	broad.mit.edu	37	2	234669132	234669132	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:234669132T>C	uc002vvb.2	+	1	214	c.199T>C	c.(199-201)TAC>CAC	p.Y67H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.Y67H	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	67					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGCCTCGTTGTACATCAGAGA	0.517000												
CHRNA4	1137	broad.mit.edu	37	20	61981063	61981063	+	Missense_Mutation	SNP	G	G	A	rs76895198		TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr20:61981063G>A	uc002yes.2	-	5	1878	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	CHRNA4_uc002yet.1_Missense_Mutation_p.A391V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.A496V|CHRNA4_uc002yev.1_Missense_Mutation_p.A391V|CHRNA4_uc010gkf.1_Missense_Mutation_p.A391V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	567	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCCCTCCACCGCCCGGGTCAG	0.672000												
APP	351	broad.mit.edu	37	21	27264121	27264121	+	Silent	SNP	G	G	A	rs148888161	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr21:27264121G>A	uc002ylz.2	-	17	2324	c.2124C>T	c.(2122-2124)GGC>GGT	p.G708G	APP_uc011acg.1_Silent_p.G216G|APP_uc010glk.2_Silent_p.G684G|APP_uc002yma.2_Silent_p.G689G|APP_uc011ach.1_Silent_p.G652G|APP_uc002ymb.2_Silent_p.G633G|APP_uc010glj.2_Silent_p.G577G|APP_uc011aci.1_Silent_p.G598G	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	708	Helical; (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGACAACACCGCCCACCATGA	0.403000												
IL17RA	23765	broad.mit.edu	37	22	17589441	17589441	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr22:17589441C>T	uc002zly.2	+	13	1465	c.1332C>T	c.(1330-1332)ATC>ATT	p.I444I	IL17RA_uc010gqt.2_Silent_p.I392I	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	444	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTAAGATCATCGTCCTGTGCT	0.687000												
SCN5A	6331	broad.mit.edu	37	3	38592950	38592950	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:38592950C>T	uc003cio.2	-	28	5107	c.4913G>A	c.(4912-4914)CGA>CAA	p.R1638Q	SCN5A_uc003cin.2_Missense_Mutation_p.R1637Q|SCN5A_uc003cil.3_Missense_Mutation_p.R1638Q|SCN5A_uc010hhi.2_Missense_Mutation_p.R1620Q|SCN5A_uc010hhk.2_Missense_Mutation_p.R1605Q|SCN5A_uc011ayr.1_Missense_Mutation_p.R1584Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1638	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGGCCCCTCGGATCAGTCT	0.592000												
KLHL18	23276	broad.mit.edu	37	3	47378131	47378131	+	Silent	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:47378131C>T	uc003crd.2	+	7	1131	c.1005C>T	c.(1003-1005)AAC>AAT	p.N335N	KLHL18_uc003crc.2_Silent_p.N335N|KLHL18_uc011bav.1_Silent_p.N223N|KLHL18_uc010hjq.1_Silent_p.N191N	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	335	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTGTGGTGAACGGGCTTCTCT	0.602000												
DALRD3	55152	broad.mit.edu	37	3	49053945	49053945	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:49053945C>T	uc003cvk.1	-	8	1084	c.1064_splice	c.e8-1	p.D355_splice	DALRD3_uc003cvl.1_Splice_Site_p.D355_splice|DALRD3_uc003cvm.1_Splice_Site_p.D188_splice|DALRD3_uc010hko.1_Splice_Site_p.D188_splice|DALRD3_uc011bca.1_Splice_Site_p.D355_splice	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGCTGGGTCTGAGGGAGTA	0.567000												
RHO	6010	broad.mit.edu	37	3	129251585	129251585	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:129251585C>A	uc003emt.2	+	4	1001	c.906C>A	c.(904-906)AAC>AAA	p.N302K		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	302	Helical; Name=7; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCTACAACCCTGTCATCT	0.582000												
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:178916726G>A	uc003fjk.2	+	2	270	c.113G>A	c.(112-114)CGT>CAT	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
RNF175	285533	broad.mit.edu	37	4	154633709	154633709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:154633709G>A	uc003int.2	-	8	1157	c.784C>T	c.(784-786)CGA>TGA	p.R262*		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	262	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CACCAACCTCGGATGCAGAAT	0.408000												
GALNTL6	442117	broad.mit.edu	37	4	173269789	173269789	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:173269789C>T	uc003isv.2	+	5	1238	c.502C>T	c.(502-504)CCA>TCA	p.P168S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	168	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TAACCGAACCCCAGGGAGTCT	0.408000												
WWC2	80014	broad.mit.edu	37	4	184182161	184182161	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:184182161A>G	uc010irx.2	+	11	1567	c.1385A>G	c.(1384-1386)AAC>AGC	p.N462S	WWC2_uc003ivk.3_Missense_Mutation_p.N257S|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.N144S|WWC2_uc003ivn.3_Missense_Mutation_p.N26S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	462	Ser-rich.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GGGTCACTCAACTCCCTCAGT	0.522000												
FBXL7	23194	broad.mit.edu	37	5	15936847	15936847	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr5:15936847G>A	uc003jfn.1	+	4	1509	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343	LRR 7.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TTCGGCCTGCGGGAGATCGCC	0.667000												
FBN2	2201	broad.mit.edu	37	5	127693009	127693009	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr5:127693009G>A	uc003kuu.2	-	20	3072	c.2633C>T	c.(2632-2634)TCG>TTG	p.S878L	FBN2_uc003kuv.2_Missense_Mutation_p.S845L	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	878	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTGCCGGGCGAACATTCACA	0.413000												
ELOVL2	54898	broad.mit.edu	37	6	10990028	10990028	+	Missense_Mutation	SNP	C	C	T	rs6919726	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr6:10990028C>T	uc003mzp.3	-	7	834	c.673G>A	c.(673-675)GTG>ATG	p.V225M		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	225	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACGGTTTCACGACGGCGCTC	0.532000												
RTN4IP1	84816	broad.mit.edu	37	6	107070695	107070695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr6:107070695C>A	uc003prj.2	-	2	901	c.424G>T	c.(424-426)GAG>TAG	p.E142*	RTN4IP1_uc010kdd.2_Nonsense_Mutation_p.E142*|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.E42*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	142						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAACTCACCTCATCTCCAGGC	0.323000												
STK31	56164	broad.mit.edu	37	7	23749944	23749944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:23749944G>T	uc003sws.3	+	1	107	c.40G>T	c.(40-42)GAA>TAA	p.E14*	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Nonsense_Mutation_p.E14*|STK31_uc010kuq.2_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	14							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TTCCGCAACGGAAAGTGTGAG	0.557000												
VWC2	375567	broad.mit.edu	37	7	49815107	49815107	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:49815107C>A	uc003tot.1	+	2	632	c.76C>A	c.(76-78)CTG>ATG	p.L26M		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	26					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						GATGGTGGCTCTGTGCAGTCC	0.642000												
ZNF425	155054	broad.mit.edu	37	7	148800964	148800964	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:148800964G>T	uc003wfj.2	-	4	2072	c.1999C>A	c.(1999-2001)CAG>AAG	p.Q667K		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	667	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCGGACACTGGAAGGGCTTC	0.542000												
MUC6	4588	broad.mit.edu	37	11	1019329	1019329	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:1019329delG	uc001lsw.2	-	30	4027	c.3976delC	c.(3976-3978)CGGfs	p.R1326fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1326	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATTGTGGTCCGTGTTGTGGAC	0.637												
TCF12	6938	broad.mit.edu	37	15	57545542	57545543	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:57545542_57545543insT	uc002aec.2	+	15	1555_1556	c.1271_1272insT	c.(1270-1272)AGTfs	p.S424fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S476fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S444fs|TCF12_uc002aea.2_Frame_Shift_Ins_p.S448fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Ins_p.S448fs|TCF12_uc002aed.2_Frame_Shift_Ins_p.S424fs|TCF12_uc002aee.2_Frame_Shift_Ins_p.S254fs|TCF12_uc010bft.2_Frame_Shift_Ins_p.S278fs|TCF12_uc010ugo.1_Frame_Shift_Ins_p.S188fs|TCF12_uc010ugp.1_Frame_Shift_Ins_p.S82fs|TCF12_uc010ugq.1_Frame_Shift_Ins_p.S58fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S37fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	424					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTTCCACCAGTTTGCCTGCTG	0.450			T	TEC	extraskeletal myxoid chondrosarcoma							
PFKP	5214	broad.mit.edu	37	10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637												
TCF12	6938	broad.mit.edu	37	15	57545543	57545544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:57545542_57545543G>GT	uc002aec.3	+	14	1555_1556	c.1271_1272G>GT	c.(1270-1272)agtfs	p.S424fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S476fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S444fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.S448fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.S448fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.S424fs|TCF12_uc010ugo.2_Frame_Shift_Ins_p.S188fs|TCF12_uc002aee.3_Frame_Shift_Ins_p.S254fs|TCF12_uc010bft.3_Frame_Shift_Ins_p.S278fs|TCF12_uc010ugp.2_Frame_Shift_Ins_p.S82fs|TCF12_uc010ugq.2_Frame_Shift_Ins_p.S58fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S37fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	424					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTTCCACCAGTTTGCCTGCTG	0.450			T	TEC	extraskeletal myxoid chondrosarcoma							
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653