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	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	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	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
GPR157	80045	broad.mit.edu	37	1	9168317	9168319	+	Intron	DEL	CCT	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9168317_9168319delCCT	uc001apq.1	-						GPR157_uc010oad.1_Intron	NM_024980	NP_079256			G protein-coupled receptor 157							integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	177647259	177647260	+	IGR	INS	-	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177647259_177647260insA								FAM5B (395702 upstream) : SEC16B (250229 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	232451623	232451625	+	IGR	DEL	AAA	-	-	rs78129699		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232451623_232451625delAAA								NMUR1 (56441 upstream) : C2orf57 (5987 downstream)																																			---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898563	53898563	+	Intron	DEL	A	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53898563delA	uc003dha.2	+							NM_018725	NP_061195			interleukin 17B receptor precursor						defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)														---	---	---	---
Unknown	0	broad.mit.edu	37	3	59399389	59399389	+	IGR	DEL	C	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:59399389delC								C3orf67 (363631 upstream) : FHIT (335649 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	3	145468476	145468477	+	IGR	INS	-	AAGG	AAGG			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145468476_145468477insAAGG								None (None upstream) : PLOD2 (318751 downstream)																																			---	---	---	---
CP	1356	broad.mit.edu	37	3	148903377	148903378	+	Intron	INS	-	CATAG	CATAG	rs59218764		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148903377_148903378insCATAG	uc003ewy.3	-						CP_uc011bnr.1_Intron|CP_uc003ewx.3_Intron|CP_uc003ewz.2_Intron	NM_000096	NP_000087			ceruloplasmin precursor						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7726210	7726211	+	Intron	INS	-	TGATGG	TGATGG	rs141913593	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7726210_7726211insTGATGG	uc003gkb.3	+						SORCS2_uc011bwi.1_Intron	NM_020777	NP_065828			VPS10 domain receptor protein SORCS 2 precursor							integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	12947367	12947368	+	IGR	INS	-	GAAG	GAAG	rs35599383		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:12947367_12947368insGAAG								None (None upstream) : HSP90AB2P (387669 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	4	74575612	74575612	+	IGR	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74575612delT								RASSF6 (89272 upstream) : IL8 (30663 downstream)																																			---	---	---	---
USO1	8615	broad.mit.edu	37	4	76726516	76726517	+	Intron	INS	-	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76726516_76726517insT	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
NDFIP1	80762	broad.mit.edu	37	5	141495889	141495892	+	Intron	DEL	TTCC	-	-	rs67146012		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141495889_141495892delTTCC	uc003lmi.3	+						NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048			Nedd4 family interacting protein 1						cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity				0		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	154940863	154940865	+	IGR	DEL	TGG	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154940863_154940865delTGG								KIF4B (543178 upstream) : SGCD (194198 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	180708855	180708855	+	IGR	DEL	G	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180708855delG								TRIM52 (20736 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	6	51136614	51136617	+	IGR	DEL	AAGG	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51136614_51136617delAAGG								TFAP2B (321289 upstream) : PKHD1 (343528 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	6	73308509	73308510	+	IGR	INS	-	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73308509_73308510insG								RIMS1 (196002 upstream) : KCNQ5 (23061 downstream)																																			---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128753114	128753115	+	Intron	INS	-	AAGG	AAGG	rs150054064	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128753114_128753115insAAGG	uc003qbk.2	-						PTPRK_uc003qbj.2_Intron|PTPRK_uc010kfc.2_Intron|PTPRK_uc011ebu.1_Intron|PTPRK_uc011ebv.1_Intron|PTPRK_uc003qbm.3_Intron	NM_002844	NP_002835			protein tyrosine phosphatase, receptor type, K						cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	56431160	56431161	+	IGR	INS	-	A	A	rs71528887		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56431160_56431161insA								PSPH (247070 upstream) : DKFZp434L192 (132755 downstream)																																			---	---	---	---
GTF2IP1	2970	broad.mit.edu	37	7	72614315	72614316	+	Intron	INS	-	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72614315_72614316insA	uc003txo.3	+						FKBP6_uc003twz.2_Intron|GTF2IP1_uc011keq.1_Intron	NR_003580				SubName: Full=cDNA FLJ61347, highly similar to General transcription factor II-I;												0																		---	---	---	---
DPY19L2P4	442523	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	C	C	rs148487888	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89748927_89748928insC	uc003ujw.1	+	1		c.214_215insC				NR_003551				Homo sapiens dpy-19-like 2 pseudogene 4 (C. elegans), mRNA (cDNA clone IMAGE:5295327).												0																		---	---	---	---
ATXN7L1	222255	broad.mit.edu	37	7	105254802	105254804	+	In_Frame_Del	DEL	GAG	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105254802_105254804delGAG	uc003vde.2	-	10	2004_2006	c.1977_1979delCTC	c.(1975-1980)TCCTCT>TCT	p.659_660SS>S	ATXN7L1_uc003vdf.2_In_Frame_Del_p.535_536SS>S|ATXN7L1_uc003vdg.3_In_Frame_Del_p.319_320SS>S|ATXN7L1_uc003vdh.3_In_Frame_Del_p.443_444SS>S	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	659_660	Ser-rich.										0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	155907140	155907140	+	IGR	DEL	A	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155907140delA								SHH (302173 upstream) : C7orf4 (426045 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	49236753	49236756	+	IGR	DEL	TGTA	-	-	rs56691762		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49236753_49236756delTGTA								UBE2V2 (262301 upstream) : EFCAB1 (386595 downstream)																																			---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39287911	39287911	+	Intron	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39287911delT	uc004abi.2	-						CNTNAP3_uc004abj.2_Intron|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Intron|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504			cell recognition molecule CASPR3 precursor						cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95796429	95796430	+	Intron	DEL	GT	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95796429_95796430delGT	uc004asw.2	+						FGD3_uc004asx.2_Intron|FGD3_uc004asz.2_Intron|FGD3_uc011luc.1_Intron	NM_001083536	NP_001077005			FYVE, RhoGEF and PH domain containing 3						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2																		---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99327505	99327506	+	Intron	INS	-	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99327505_99327506insT	uc004awj.2	-						CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_Intron|CDC14B_uc004awi.2_Intron	NM_033331	NP_201588			CDC14 homolog B isoform 2						activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
Unknown	0	broad.mit.edu	37	9	132062709	132062710	+	IGR	INS	-	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132062709_132062710insT								IER5L (122169 upstream) : C9orf106 (20585 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	10	2220824	2220825	+	IGR	INS	-	CTTC	CTTC			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:2220824_2220825insCTTC								ADARB2 (441106 upstream) : PFKP (888927 downstream)																																			---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38299844	38299844	+	Intron	DEL	C	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38299844delC	uc001izh.2	+						ZNF33A_uc001izg.2_Intron|ZNF33A_uc010qev.1_Intron|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905			zinc finger protein 33A isoform b							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
FAM21C	253725	broad.mit.edu	37	10	46221019	46221022	+	5'Flank	DEL	AAAC	-	-	rs113880906		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46221019_46221022delAAAC	uc001jcu.2	+						FAM21C_uc001jcs.1_5'Flank|FAM21C_uc001jct.2_5'Flank|FAM21C_uc010qfi.1_5'Flank	NM_015262	NP_056077			hypothetical protein LOC253725											ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	86535359	86535360	+	IGR	INS	-	TT	TT	rs138295367	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:86535359_86535360insTT								FAM190B (257083 upstream) : GRID1 (823952 downstream)																																			---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16147363	16147366	+	Intron	DEL	AGGA	-	-	rs143062475		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:16147363_16147366delAGGA	uc001mme.2	-						SOX6_uc001mmd.2_Intron|SOX6_uc001mmf.2_Intron|SOX6_uc001mmg.2_Intron	NM_001145819	NP_001139291			SRY (sex determining region Y)-box 6 isoform 4						muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
GAL	51083	broad.mit.edu	37	11	68458593	68458593	+	3'UTR	DEL	T	-	-	rs75147512		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68458593delT	uc001oob.2	+	6						NM_015973	NP_057057			galanin preproprotein						growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity				0	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)														---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105961622	105961625	+	Intron	DEL	TACT	-	-	rs138293505		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105961622_105961625delTACT	uc001pjc.1	+						AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Intron	NM_015423	NP_056238			aminoadipate-semialdehyde						macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)														---	---	---	---
CLEC12A	160364	broad.mit.edu	37	12	10131410	10131410	+	Intron	DEL	A	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10131410delA	uc001qwr.3	+						CLEC12A_uc001qwq.2_Intron|CLEC12A_uc001qws.3_Intron|CLEC12A_uc001qwt.2_Intron	NM_138337	NP_612210			myeloid inhibitory C-type lectin-like receptor							integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80730562	80730562	+	IGR	DEL	T	-	-	rs11300714		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80730562delT								PPP1R12A (401327 upstream) : PTPRQ (107564 downstream)																																			---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51936274	51936274	+	3'UTR	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51936274delT	uc001vfk.2	-	18					SERPINE3_uc010tgp.1_Intron|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_012141	NP_036273			integrator complex subunit 6 isoform a						snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)														---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65264221	65264222	+	Intron	DEL	GG	-	-	rs74056015		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65264221_65264222delGG	uc001xht.2	-						SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Intron	NM_000347	NP_000338			spectrin beta isoform b						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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91233373	91233373	+	Intron	DEL	A	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91233373delA	uc001xyp.2	-							NM_001010854	NP_001010854			tetratricopeptide repeat domain 7B								binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100896489	100896490	+	Intron	DEL	GT	-	-	rs35312840		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100896489_100896490delGT	uc010avx.2	+						WDR25_uc001yhm.2_Intron|WDR25_uc001yhn.2_Intron|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Intron	NM_001161476	NP_001154948			WD repeat domain 25												0		Melanoma(154;0.212)																---	---	---	---
Unknown	0	broad.mit.edu	37	15	22448174	22448174	+	IGR	DEL	A	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22448174delA								OR4N3P (33789 upstream) : MIR1268 (65055 downstream)																																			---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49470575	49470576	+	Intron	INS	-	AT	AT	rs150435365	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49470575_49470576insAT	uc001zxj.1	+						GALK2_uc001zxi.1_Intron|GALK2_uc010ufb.1_Intron|GALK2_uc001zxk.2_Intron|GALK2_uc010ufc.1_Intron	NM_002044	NP_002035			galactokinase 2 isoform 1						galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311459	75311460	+	3'UTR	DEL	TA	-	-	rs71434247		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75311459_75311460delTA	uc002azk.1	+	7					SCAMP5_uc002azl.1_3'UTR|SCAMP5_uc002azm.1_3'UTR|SCAMP5_uc002azn.1_3'UTR|SCAMP5_uc010uly.1_3'UTR	NM_138967	NP_620417			secretory carrier membrane protein 5						exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1																		---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90933847	90933847	+	Intron	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90933847delT	uc002bpl.1	+							NM_003870	NP_003861			IQ motif containing GTPase activating protein 1						energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
Unknown	0	broad.mit.edu	37	16	81761684	81761685	+	IGR	INS	-	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81761684_81761685insT								CMIP (16319 upstream) : PLCG2 (51245 downstream)																																			---	---	---	---
CYBA	1535	broad.mit.edu	37	16	88709815	88709816	+	Frame_Shift_Ins	INS	-	C	C	rs144748313	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88709815_88709816insC	uc002flb.2	-	6	569_570	c.533_534insG	c.(532-534)GGAfs	p.G178fs	CYBA_uc002flc.1_RNA	NM_000101	NP_000092	P13498	CY24A_HUMAN	cytochrome b, alpha polypeptide	178	Pro-rich.				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)														---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19444286	19444291	+	Intron	DEL	ATCCTG	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19444286_19444291delATCCTG	uc002ktq.2	+						MIB1_uc002ktp.2_Intron	NM_020774	NP_065825			mindbomb homolog 1						Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)															---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6832570	6832572	+	Intron	DEL	CTC	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6832570_6832572delCTC	uc002mfu.1	+						VAV1_uc010xjh.1_Intron|VAV1_uc010dva.1_Intron|VAV1_uc002mfv.1_Intron	NM_005428	NP_005419			vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57838232	57838236	+	Intron	DEL	CCCGC	-	-	rs71293944		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57838232_57838236delCCCGC	uc002qoi.1	+							NM_213598	NP_998763			zinc finger protein 543						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
C20orf112	140688	broad.mit.edu	37	20	31035206	31035207	+	3'UTR	INS	-	AAAAA	AAAAA	rs149650216		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31035206_31035207insAAAAA	uc002wxu.3	-	8					C20orf112_uc010gec.2_3'UTR	NM_080616	NP_542183			hypothetical protein LOC140688												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	21527046	21527046	+	IGR	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21527046delT								None (None upstream) : C21orf131 (587868 downstream)																																			---	---	---	---
HORMAD2	150280	broad.mit.edu	37	22	30517605	30517605	+	Intron	DEL	T	-	-			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30517605delT	uc003agy.2	+							NM_152510	NP_689723			HORMA domain containing 2						meiosis|mitosis	chromosome|nucleus					0			Epithelial(10;0.125)															---	---	---	---
ATXN10	25814	broad.mit.edu	37	22	46136597	46136598	+	Intron	INS	-	AT	AT	rs67765053		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46136597_46136598insAT	uc003bgm.1	+						ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_Intron	NM_013236	NP_037368			ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)														---	---	---	---
TYMP	1890	broad.mit.edu	37	22	50964820	50964821	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50964820_50964821insG	uc003bmb.3	-	7	1133_1134	c.1013_1014insC	c.(1012-1014)TCGfs	p.S338fs	SCO2_uc003bma.2_5'Flank|SCO2_uc003blz.3_5'Flank|TYMP_uc003bmc.3_Frame_Shift_Ins_p.S338fs|TYMP_uc003bmd.3_Frame_Shift_Ins_p.S338fs|TYMP_uc010hbd.2_Frame_Shift_Ins_p.S338fs|TYMP_uc003bme.3_Frame_Shift_Ins_p.S338fs|TYMP_uc003bmf.3_Frame_Shift_Ins_p.S305fs	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	338	R-V-A-A-A-L-X(5,6)-L-G-R.				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)													---	---	---	---
Unknown	0	broad.mit.edu	37	X	128740973	128740980	+	IGR	DEL	AAGGAAGT	-	-	rs72146220		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128740973_128740980delAAGGAAGT								OCRL (14445 upstream) : APLN (38346 downstream)																																			---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11181417	11181417	+	Silent	SNP	C	A	A	rs138151561	byFrequency	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11181417C>A	uc001asd.2	-	49	6940	c.6819G>T	c.(6817-6819)CCG>CCT	p.P2273P	MTOR_uc001asc.2_Silent_p.P478P	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2273	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MUL1	79594	broad.mit.edu	37	1	20827537	20827537	+	Silent	SNP	C	T	T	rs61753588		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20827537C>T	uc001bdi.3	-	4	862	c.705G>A	c.(703-705)TCG>TCA	p.S235S		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	235	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)														---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40981216	40981216	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981216G>C	uc001cfp.2	+	3	1205	c.1000G>C	c.(1000-1002)GGA>CGA	p.G334R	DEM1_uc001cfq.2_Missense_Mutation_p.G334R|DEM1_uc001cfr.2_Missense_Mutation_p.G334R|DEM1_uc001cfs.2_Missense_Mutation_p.G334R	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	334							DNA binding|exonuclease activity				0																		---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45501806	45501806	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45501806C>T	uc001cnd.2	-	9	2288	c.2060G>A	c.(2059-2061)CGT>CAT	p.R687H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	687							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
C1orf190	541468	broad.mit.edu	37	1	46685674	46685674	+	Missense_Mutation	SNP	G	A	A	rs138211805	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46685674G>A	uc010oma.1	+	2	595	c.502G>A	c.(502-504)GAG>AAG	p.E168K	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	168					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
BCL2L15	440603	broad.mit.edu	37	1	114429946	114429946	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114429946G>A	uc001edw.2	-	1	224	c.52C>T	c.(52-54)CTA>TTA	p.L18L	uc001edv.1_Intron|BCL2L15_uc001edx.2_Silent_p.L18L|BCL2L15_uc001edy.2_RNA|BCL2L15_uc001edz.1_RNA	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	18					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
FLG	2312	broad.mit.edu	37	1	152286817	152286817	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152286817T>G	uc001ezu.1	-	3	581	c.545A>C	c.(544-546)AAA>ACA	p.K182T	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	182					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161043088	161043088	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161043088G>A	uc001fxo.2	-	8	1534	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	412	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236850010	236850010	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236850010G>A	uc001hyf.2	+	1	241	c.37G>A	c.(37-39)GTG>ATG	p.V13M	ACTN2_uc001hyg.2_Translation_Start_Site|ACTN2_uc009xgi.1_Missense_Mutation_p.V13M	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	13	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
GALM	130589	broad.mit.edu	37	2	38908455	38908455	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38908455G>A	uc002rqy.2	+	3	631	c.379G>A	c.(379-381)GTC>ATC	p.V127I		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	127					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)																---	---	---	---
Unknown	0	broad.mit.edu	37	2	89265869	89265869	+	RNA	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89265869C>A	uc010ytr.1	-	95		c.7697G>T			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98451101	98451101	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98451101C>A	uc002syh.3	-	10	1224	c.995G>T	c.(994-996)GGT>GTT	p.G332V	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	332						integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---
C2orf55	343990	broad.mit.edu	37	2	99449454	99449454	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99449454C>T	uc002szf.1	-	4	540	c.246G>A	c.(244-246)TCG>TCA	p.S82S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	82											0																		---	---	---	---
CCDC138	165055	broad.mit.edu	37	2	109463198	109463198	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109463198C>T	uc002ten.1	+	12	1388	c.1328C>T	c.(1327-1329)TCG>TTG	p.S443L	CCDC138_uc002teo.1_Missense_Mutation_p.S443L|CCDC138_uc002tep.1_Missense_Mutation_p.S127L|CCDC138_uc010fjm.1_Missense_Mutation_p.S127L	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	443											0																		---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604668	179604668	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604668T>G	uc010zfh.1	-	46	13003	c.12779A>C	c.(12778-12780)AAC>ACC	p.N4260T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.N4193T|TTN_uc010zfj.1_Missense_Mutation_p.N4068T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202558645	202558645	+	Silent	SNP	T	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202558645T>G	uc002uyk.3	-	2	241	c.33A>C	c.(31-33)CCA>CCC	p.P11P	MPP4_uc010ftj.2_Silent_p.P11P|MPP4_uc010zhq.1_Silent_p.P11P|MPP4_uc010zhr.1_Silent_p.P11P|MPP4_uc010zhs.1_Silent_p.P11P|MPP4_uc002uyj.3_Silent_p.P11P|MPP4_uc010zht.1_Silent_p.P11P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.P11P|MPP4_uc002uym.1_Silent_p.P24P|MPP4_uc002uyn.2_Silent_p.P11P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	11						cytoplasm	protein binding				0																		---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207424813	207424813	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207424813G>T	uc002vbq.2	+	11	1363	c.1140G>T	c.(1138-1140)AAG>AAT	p.K380N	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	380	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242141701	242141701	+	Silent	SNP	C	T	T	rs151257402		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242141701C>T	uc002wax.2	+	8	970	c.867C>T	c.(865-867)GCC>GCT	p.A289A		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	289	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
CPNE9	151835	broad.mit.edu	37	3	9757165	9757165	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9757165C>A	uc003bsd.2	+	12	948	c.777C>A	c.(775-777)AAC>AAA	p.N259K		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	259										ovary(2)	2	Medulloblastoma(99;0.227)																	---	---	---	---
SEC13	6396	broad.mit.edu	37	3	10354288	10354288	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10354288G>A	uc003bvn.2	-	4	410	c.291C>T	c.(289-291)CAC>CAT	p.H97H	SEC13_uc003bvl.2_Silent_p.H29H|SEC13_uc003bvm.2_Silent_p.H83H|SEC13_uc003bvp.2_Silent_p.H100H|SEC13_uc003bvo.2_Silent_p.H143H|SEC13_uc003bvq.1_Silent_p.H83H|SEC13_uc003bvr.1_Silent_p.H83H|SEC13_uc011aul.1_Silent_p.H97H	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	97					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---
GALNTL2	117248	broad.mit.edu	37	3	16217180	16217180	+	Silent	SNP	C	T	T	rs142412711	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16217180C>T	uc003car.3	+	1	997	c.522C>T	c.(520-522)CCC>CCT	p.P174P	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	174	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38278355	38278355	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38278355G>A	uc003chy.2	+	11	1319	c.977G>A	c.(976-978)GGG>GAG	p.G326E	OXSR1_uc010hhb.2_Missense_Mutation_p.G260E	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	326					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525589	173525589	+	Missense_Mutation	SNP	G	A	A	rs142026432		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173525589G>A	uc003fio.1	+	4	1036	c.613G>A	c.(613-615)GTC>ATC	p.V205I	NLGN1_uc010hww.1_Missense_Mutation_p.V245I|NLGN1_uc003fip.1_Missense_Mutation_p.V205I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	222	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.V205L(1)		lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	A	A	rs121913273		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		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.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(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)			E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184936035	184936035	+	Intron	SNP	T	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184936035T>A	uc003fpf.2	-						EHHADH_uc011brs.1_Intron	NM_001966	NP_001957			enoyl-Coenzyme A, hydratase/3-hydroxyacyl							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)													---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5564606	5564606	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5564606T>A	uc003gij.2	-	22	3950	c.3896A>T	c.(3895-3897)AAA>ATA	p.K1299I	EVC2_uc011bwb.1_Missense_Mutation_p.K739I|EVC2_uc003gik.2_Missense_Mutation_p.K1219I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1299						integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13602962	13602962	+	Silent	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13602962A>G	uc003gmz.1	-	10	5679	c.5562T>C	c.(5560-5562)ATT>ATC	p.I1854I	BOD1L_uc010idr.1_Silent_p.I1191I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1854							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525430	20525430	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525430A>G	uc003gpr.1	+	13	1382	c.1178A>G	c.(1177-1179)CAG>CGG	p.Q393R	SLIT2_uc003gps.1_Missense_Mutation_p.Q393R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	393	LRR 10.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73175207	73175207	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73175207T>A	uc003hgk.1	-	15	2123	c.2086A>T	c.(2086-2088)AAT>TAT	p.N696Y	ADAMTS3_uc003hgl.2_Missense_Mutation_p.N37Y	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507659	155507659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155507659G>A	uc003iod.1	-	5	980	c.922C>T	c.(922-924)CGA>TGA	p.R308*	FGA_uc003ioe.1_Nonsense_Mutation_p.R308*|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	308	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66430465	66430465	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66430465G>A	uc003jut.1	+	17	1842	c.1774G>A	c.(1774-1776)GTG>ATG	p.V592M	MAST4_uc003juu.1_Missense_Mutation_p.V602M|MAST4_uc011cra.1_Missense_Mutation_p.V575M|MAST4_uc003juv.2_Missense_Mutation_p.V587M|MAST4_uc003juw.2_Missense_Mutation_p.V587M	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	784	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82816386	82816386	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82816386C>A	uc003kii.3	+	7	2617	c.2261C>A	c.(2260-2262)ACA>AAA	p.T754K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T754K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	754	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89923174	89923174	+	Silent	SNP	T	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89923174T>C	uc003kju.2	+	7	915	c.819T>C	c.(817-819)CCT>CCC	p.P273P	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	273	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96503524	96503524	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96503524G>A	uc003kmz.2	-	8	1154	c.1044C>T	c.(1042-1044)TAC>TAT	p.Y348Y	RIOK2_uc003kna.3_Silent_p.Y348Y	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	348	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)														---	---	---	---
IL4	3565	broad.mit.edu	37	5	132010202	132010202	+	Intron	SNP	A	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132010202A>T	uc003kxk.1	+						IL4_uc003kxl.1_Intron	NM_000589	NP_000580			interleukin 4 isoform 1 precursor						B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding				0		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)														---	---	---	---
RAB24	53917	broad.mit.edu	37	5	176730061	176730061	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176730061G>A	uc003mfv.2	-	3	504	c.135C>T	c.(133-135)TTC>TTT	p.F45F	RAB24_uc003mfu.2_Silent_p.F16F|RAB24_uc003mfw.2_Silent_p.F45F|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	RAB24 gene product	45	Effector region (By similarity).				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180038423	180038423	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180038423G>C	uc003mma.3	-	27	3673	c.3594C>G	c.(3592-3594)AGC>AGG	p.S1198R	FLT4_uc003mlz.3_Missense_Mutation_p.S1198R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1198	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12123037	12123037	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12123037C>T	uc003nac.2	+	4	3188	c.3009C>T	c.(3007-3009)CCC>CCT	p.P1003P	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1003					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31600597	31600597	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31600597C>T	uc003nvb.3	+	16	4396	c.4147C>T	c.(4147-4149)CGG>TGG	p.R1383W	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1383W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1383	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
RWDD2A	112611	broad.mit.edu	37	6	83905791	83905791	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83905791G>A	uc003pjx.3	+	3	950	c.679G>A	c.(679-681)GTG>ATG	p.V227M	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.V152M	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	227											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)														---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446536	85446536	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85446536G>A	uc003pkl.1	-	8	1691	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
CENPW	387103	broad.mit.edu	37	6	126661513	126661513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126661513C>T	uc003qao.2	+	1	261	c.94C>T	c.(94-96)CAA>TAA	p.Q32*	CENPW_uc003qap.3_RNA	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	hypothetical protein LOC387103	32						chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2402342	2402342	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2402342G>T	uc003slx.2	+	3	838	c.755G>T	c.(754-756)GGC>GTC	p.G252V	EIF3B_uc003sly.2_Missense_Mutation_p.G252V|EIF3B_uc003slz.1_Missense_Mutation_p.G213V|EIF3B_uc003sma.2_5'UTR	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	252	Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)														---	---	---	---
ACTB	60	broad.mit.edu	37	7	5568970	5568970	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5568970C>G	uc003sos.3	-	2	221	c.185G>C	c.(184-186)AGA>ACA	p.R62T	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.R62T|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	62					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)														---	---	---	---
SP4	6671	broad.mit.edu	37	7	21550866	21550866	+	Silent	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21550866A>G	uc003sva.2	+	6	2515	c.2334A>G	c.(2332-2334)TCA>TCG	p.S778S	SP4_uc003svb.2_Silent_p.S465S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	778					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31104563	31104563	+	Intron	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31104563C>T	uc003tca.1	+						ADCYAP1R1_uc003tcb.1_Intron|ADCYAP1R1_uc003tcc.1_Intron|ADCYAP1R1_uc003tcd.1_Intron|ADCYAP1R1_uc003tce.1_Intron	NM_001118	NP_001109			adenylate cyclase activating polypeptide 1						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
HGF	3082	broad.mit.edu	37	7	81381520	81381520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81381520G>A	uc003uhl.2	-	5	706	c.541C>T	c.(541-543)CGA>TGA	p.R181*	HGF_uc003uhm.2_Nonsense_Mutation_p.R176*|HGF_uc003uhn.1_Nonsense_Mutation_p.R181*|HGF_uc003uho.1_Nonsense_Mutation_p.R176*|HGF_uc003uhp.2_Nonsense_Mutation_p.R181*	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	181	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86526893	86526893	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86526893C>T	uc011kha.1	-	19	2799	c.2614G>A	c.(2614-2616)GCT>ACT	p.A872T	KIAA1324L_uc003uif.1_Missense_Mutation_p.A632T|KIAA1324L_uc011kgz.1_Missense_Mutation_p.A758T|KIAA1324L_uc003uie.2_Missense_Mutation_p.A705T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	872	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)																	---	---	---	---
C7orf63	79846	broad.mit.edu	37	7	89939392	89939392	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89939392G>T	uc010lep.2	+	23	2917	c.2666G>T	c.(2665-2667)GGT>GTT	p.G889V	C7orf63_uc011khj.1_Missense_Mutation_p.G871V|C7orf63_uc011khk.1_Missense_Mutation_p.G405V	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	889							binding			ovary(1)	1																		---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141618798	141618798	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141618798C>A	uc003vwu.1	+	1	123	c.123C>A	c.(121-123)AAC>AAA	p.N41K		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142573294	142573294	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142573294C>T	uc003wbx.1	-	8	1265	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TRPV6_uc003wbw.1_Missense_Mutation_p.R136H|TRPV6_uc010lou.1_Missense_Mutation_p.R221H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	350	Extracellular (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)																	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6500543	6500543	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6500543C>T	uc003wqi.2	+	14	2549	c.2481C>T	c.(2479-2481)GCC>GCT	p.A827A	uc003wqm.2_Intron	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	827	BRCT 3.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
SOX7	83595	broad.mit.edu	37	8	10583557	10583557	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10583557C>T	uc003wtf.2	-	2	937	c.858G>A	c.(856-858)CCG>CCA	p.P286P	SOX7_uc011kwz.1_Silent_p.P338P	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	286	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)														---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13259102	13259102	+	Silent	SNP	C	T	T	rs147228489	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13259102C>T	uc003wwm.2	-	3	1494	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	DLC1_uc003wwn.2_Silent_p.A350A|DLC1_uc011kxy.1_Silent_p.A350A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	350					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
TACC1	6867	broad.mit.edu	37	8	38693782	38693782	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38693782G>A	uc010lwp.2	+	7	2195	c.1816G>A	c.(1816-1818)GTG>ATG	p.V606M	TACC1_uc011lby.1_Missense_Mutation_p.V411M|TACC1_uc003xma.2_Missense_Mutation_p.V44M|TACC1_uc003xlz.2_Missense_Mutation_p.V411M|TACC1_uc003xmc.3_Missense_Mutation_p.V410M|TACC1_uc011lbz.1_Missense_Mutation_p.V593M|TACC1_uc003xmb.3_Missense_Mutation_p.V532M|TACC1_uc010lwo.1_Missense_Mutation_p.V139M|TACC1_uc003xmf.3_Missense_Mutation_p.V196M|TACC1_uc011lca.1_Missense_Mutation_p.V589M|TACC1_uc011lcb.1_Missense_Mutation_p.V382M|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.V423M|TACC1_uc010lwq.2_Missense_Mutation_p.V423M	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	606					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)															---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42586889	42586889	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42586889G>A	uc003xpi.1	+	5	567	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	147	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48874864	48874864	+	Splice_Site	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48874864G>T	uc003xqk.1	+	5	495	c.400_splice	c.e5-1	p.A134_splice	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Splice_Site_p.A134_splice|MCM4_uc011ldi.1_Splice_Site_p.A121_splice|MCM4_uc010lxw.1_Splice_Site	NM_182746	NP_877423			minichromosome maintenance complex component 4						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)																---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62370926	62370926	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62370926C>T	uc003xuh.2	+	5	1126	c.802C>T	c.(802-804)CCC>TCC	p.P268S	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	268	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5																		---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122626580	122626580	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122626580T>C	uc003yph.2	-	4	1966	c.1428A>G	c.(1426-1428)ATA>ATG	p.I476M		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	476	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
ANGPTL2	23452	broad.mit.edu	37	9	129870346	129870346	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129870346G>T	uc004bqr.1	-	2	1165	c.665C>A	c.(664-666)CCC>CAC	p.P222H	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	222					multicellular organismal development|signal transduction	extracellular space	receptor binding				0																		---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134049567	134049567	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134049567G>A	uc004cag.2	+	22	3130	c.3019G>A	c.(3019-3021)GAG>AAG	p.E1007K	NUP214_uc004cah.2_Missense_Mutation_p.E997K|NUP214_uc004cai.2_Missense_Mutation_p.E437K|NUP214_uc004caf.1_Missense_Mutation_p.E996K|NUP214_uc010mzf.2_Missense_Mutation_p.E305K	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1007	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)				T	DEK|SET|ABL1	AML|T-ALL								---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1151085	1151085	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1151085G>A	uc001igf.1	+	11	1154	c.981G>A	c.(979-981)ACG>ACA	p.T327T	WDR37_uc009xhm.1_Silent_p.T328T|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	327	WD 4.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)														---	---	---	---
AKR1C4	1109	broad.mit.edu	37	10	5238879	5238879	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5238879C>T	uc001ihw.2	+	1	82	c.49C>T	c.(49-51)CCC>TCC	p.P17S		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	17	NADP (By similarity).				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
UPF2	26019	broad.mit.edu	37	10	11971960	11971960	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11971960C>T	uc001ila.2	-	20	4187	c.3713G>A	c.(3712-3714)CGC>CAC	p.R1238H	UPF2_uc001ilb.2_Missense_Mutation_p.R1238H|UPF2_uc001ilc.2_Missense_Mutation_p.R1238H	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1238	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)																---	---	---	---
ANKRD22	118932	broad.mit.edu	37	10	90585816	90585816	+	Silent	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90585816G>T	uc001kfj.3	-	4	746	c.378C>A	c.(376-378)GTC>GTA	p.V126V		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	126	ANK 3.										0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)														---	---	---	---
IDE	3416	broad.mit.edu	37	10	94269798	94269798	+	Intron	SNP	T	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94269798T>C	uc001kia.2	-							NM_004969	NP_004960			insulin-degrading enzyme isoform 1 precursor						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
TIAL1	7073	broad.mit.edu	37	10	121339500	121339500	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121339500T>C	uc001lei.1	-	6	958	c.394A>G	c.(394-396)ATG>GTG	p.M132V	TIAL1_uc001leh.1_Missense_Mutation_p.M110V|TIAL1_uc001lej.1_Missense_Mutation_p.M149V|TIAL1_uc001lek.1_Missense_Mutation_p.M9V|TIAL1_uc009xzi.1_Missense_Mutation_p.M1V|TIAL1_uc010qtb.1_Missense_Mutation_p.M9V	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1	132	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)														---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123274809	123274809	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123274809G>T	uc010qtk.1	-	9	1756	c.1109C>A	c.(1108-1110)ACA>AAA	p.T370K	FGFR2_uc010qtg.1_Missense_Mutation_p.T258K|FGFR2_uc010qth.1_Missense_Mutation_p.T255K|FGFR2_uc010qti.1_Missense_Mutation_p.T281K|FGFR2_uc010qtj.1_Missense_Mutation_p.T371K|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.T255K|FGFR2_uc001lfl.3_Missense_Mutation_p.T371K|FGFR2_uc001lfm.2_Missense_Mutation_p.T282K|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	370	Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.T370R(1)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537612	5537612	+	Silent	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5537612C>A	uc001maz.3	-	1	345	c.60G>T	c.(58-60)CTG>CTT	p.L20L	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	20										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)														---	---	---	---
LMO1	4004	broad.mit.edu	37	11	8246154	8246154	+	3'UTR	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8246154C>T	uc001mgg.1	-	4					LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_3'UTR	NM_002315	NP_002306			LIM domain only 1						cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)				T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							---	---	---	---
EIF3M	10480	broad.mit.edu	37	11	32610588	32610588	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32610588G>C	uc001mtu.2	+	4	388	c.345G>C	c.(343-345)AAG>AAC	p.K115N	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	115						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)																	---	---	---	---
CFL1	1072	broad.mit.edu	37	11	65623469	65623469	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65623469G>T	uc001ofs.2	-	2	482	c.248C>A	c.(247-249)GCC>GAC	p.A83D	CFL1_uc001oft.2_Missense_Mutation_p.A83D|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)	83	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)														---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	T	T	rs147082398		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73814404C>T	uc001ouu.2	-	14	2579	c.2352G>A	c.(2350-2352)ACG>ACA	p.T784T		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)																	---	---	---	---
JRKL	8690	broad.mit.edu	37	11	96124155	96124155	+	Silent	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:96124155A>G	uc009ywu.2	+	2	594	c.342A>G	c.(340-342)GGA>GGG	p.G114G	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.G114G	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	114	HTH CENPB-type.|H-T-H motif (By similarity).				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)														---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128843252	128843252	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128843252G>A	uc009zcp.2	-	21	3107	c.3107C>T	c.(3106-3108)CCG>CTG	p.P1036L	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.P687L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1036	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39726737	39726737	+	Missense_Mutation	SNP	G	A	A	rs145318959		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39726737G>A	uc001rly.2	-	19	2806	c.2660C>T	c.(2659-2661)GCG>GTG	p.A887V	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.A204V|KIF21A_uc001rlx.2_Missense_Mutation_p.A874V|KIF21A_uc001rlz.2_Missense_Mutation_p.A851V|KIF21A_uc010skl.1_Missense_Mutation_p.A874V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	887					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245192	46245192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46245192C>T	uc001ros.1	+	15	3286	c.3286C>T	c.(3286-3288)CAG>TAG	p.Q1096*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1096*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q552*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q723*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q430*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1096	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53586645	53586645	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53586645C>T	uc009zmv.2	-	12	1847	c.1776G>A	c.(1774-1776)ACG>ACA	p.T592T	ITGB7_uc001scc.2_Silent_p.T592T|ITGB7_uc010snz.1_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	592	Cysteine-rich tandem repeats.|Extracellular (Potential).|III.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8																		---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111227	81111227	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81111227C>T	uc001szg.2	+	1	520	c.385C>T	c.(385-387)CGC>TGC	p.R129C		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---
TMEM119	338773	broad.mit.edu	37	12	108985349	108985349	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108985349C>T	uc001tng.2	-	2	974	c.811G>A	c.(811-813)GAA>AAA	p.E271K	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133398686	133398686	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133398686C>T	uc001ukz.1	-	2	588	c.29G>A	c.(28-30)GGC>GAC	p.G10D	GOLGA3_uc001ula.1_Missense_Mutation_p.G10D|GOLGA3_uc001ulb.2_Missense_Mutation_p.G10D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	10					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32893207	32893207	+	Intron	SNP	T	A	A	rs81002830		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32893207T>A	uc001uub.1	+						BRCA2_uc001uua.1_Intron	NM_000059	NP_000050			breast cancer 2, early onset						cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.?(4)		ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96592282	96592282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96592282G>A	uc001vmt.2	-	16	1911	c.1741C>T	c.(1741-1743)CAA>TAA	p.Q581*		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	581					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	34270057	34270057	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:34270057G>A	uc001wru.2	+	12	2608	c.2544G>A	c.(2542-2544)GCG>GCA	p.A848A	NPAS3_uc001wrs.2_Silent_p.A835A|NPAS3_uc001wrt.2_Silent_p.A816A|NPAS3_uc001wrv.2_Silent_p.A818A	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)														---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132608	37132608	+	Missense_Mutation	SNP	G	A	A	rs143020311	byFrequency	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37132608G>A	uc001wty.3	+	3	1228	c.511G>A	c.(511-513)GCC>ACC	p.A171T	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	171	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)														---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844974	94844974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94844974C>T	uc001ycx.3	-	5	1330	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.V357M|SERPINA1_uc010aux.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycy.3_Missense_Mutation_p.V357M|SERPINA1_uc010auy.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycz.3_Missense_Mutation_p.V357M|SERPINA1_uc010auz.2_Missense_Mutation_p.V357M|SERPINA1_uc010ava.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydb.3_Missense_Mutation_p.V357M|SERPINA1_uc010avb.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydc.3_Missense_Mutation_p.V357M	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	357					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)									Alpha-1-Antitrypsin_Deficiency				---	---	---	---
USP8	9101	broad.mit.edu	37	15	50782672	50782672	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50782672G>T	uc001zym.3	+	15	2684	c.2184G>T	c.(2182-2184)GAG>GAT	p.E728D	USP8_uc001zyl.3_Missense_Mutation_p.E728D|USP8_uc001zyn.3_Missense_Mutation_p.E728D|USP8_uc010ufh.1_Missense_Mutation_p.E622D|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	728					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69713981	69713981	+	Intron	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69713981C>T	uc002asb.2	+						KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_5'Flank|KIF23_uc010bih.1_Intron	NM_138555	NP_612565			kinesin family member 23 isoform 1						blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---
STRA6	64220	broad.mit.edu	37	15	74481511	74481511	+	Silent	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74481511G>T	uc002axk.2	-	12	1217	c.1035C>A	c.(1033-1035)TCC>TCA	p.S345S	STRA6_uc002axi.2_Silent_p.S154S|STRA6_uc010ulh.1_Silent_p.S383S|STRA6_uc002axj.2_Silent_p.S384S|STRA6_uc010bji.2_Silent_p.S345S|STRA6_uc002axl.2_Silent_p.S277S|STRA6_uc002axm.2_Silent_p.S345S|STRA6_uc002axn.2_Silent_p.S336S|STRA6_uc010uli.1_Silent_p.S382S|STRA6_uc010bjj.1_RNA	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	345	Helical; (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1																		---	---	---	---
ODF3L1	161753	broad.mit.edu	37	15	76019658	76019658	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76019658C>A	uc002bax.1	+	4	824	c.602C>A	c.(601-603)CCT>CAT	p.P201H		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	201	DUF1309 1.										0																		---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89424648	89424648	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89424648G>T	uc002bnc.2	-	3	561	c.433C>A	c.(433-435)CGC>AGC	p.R145S	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R207S	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	145	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)																	---	---	---	---
A2BP1	54715	broad.mit.edu	37	16	7759122	7759122	+	Missense_Mutation	SNP	G	A	A	rs138704494		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:7759122G>A	uc002cys.2	+	15	2048	c.1060G>A	c.(1060-1062)GTT>ATT	p.V354I	A2BP1_uc002cyt.2_Missense_Mutation_p.V327I|A2BP1_uc010uxz.1_Missense_Mutation_p.V397I|A2BP1_uc010uya.1_Silent_p.A328A|A2BP1_uc010uyb.1_Missense_Mutation_p.V354I|A2BP1_uc002cyw.2_Silent_p.A392A|A2BP1_uc002cyy.2_Missense_Mutation_p.V375I|A2BP1_uc002cyx.2_Missense_Mutation_p.V375I|A2BP1_uc010uyc.1_Missense_Mutation_p.V348I	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	354					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)														---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23382763	23382763	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23382763A>G	uc002dln.2	+	6	1200	c.1024A>G	c.(1024-1026)ACG>GCG	p.T342A		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	342	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
CDH1	999	broad.mit.edu	37	16	68842627	68842627	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68842627T>A	uc002ewg.1	+	5	687	c.563T>A	c.(562-564)GTT>GAT	p.V188D	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.V188D	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	188	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21826201	21826201	+	RNA	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21826201C>T	uc002gyz.2	+	2		c.311C>T				NR_028336				Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds.												0				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)														---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26944003	26944003	+	Silent	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26944003G>T	uc002hbu.2	-	34	6024	c.5925C>A	c.(5923-5925)CCC>CCA	p.P1975P	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Silent_p.P304P	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1975						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38652436	38652436	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38652436G>A	uc010cxb.2	-	2	406	c.242C>T	c.(241-243)CCG>CTG	p.P81L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	81					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40639324	40639324	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40639324C>T	uc002hzr.2	+	10	1129	c.962C>T	c.(961-963)GCA>GTA	p.A321V	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.A321V|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.A328V|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.A180V	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	321	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)														---	---	---	---
HOXB2	3212	broad.mit.edu	37	17	46621062	46621062	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46621062G>A	uc002inm.2	-	2	559	c.439C>T	c.(439-441)CGC>TGC	p.R147C		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	147	Homeobox.				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61621612	61621612	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61621612G>A	uc002jay.2	+	12	2424	c.2344G>A	c.(2344-2346)GCA>ACA	p.A782T	KCNH6_uc010wpl.1_Missense_Mutation_p.A623T|KCNH6_uc010wpm.1_Missense_Mutation_p.A746T|KCNH6_uc002jaz.1_Missense_Mutation_p.A693T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	782	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)													---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66538959	66538959	+	Intron	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66538959G>A	uc002jho.2	-						FAM20A_uc010wqp.1_Intron|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Intron	NM_017565	NP_060035			family with sequence similarity 20, member A							extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78854264	78854264	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78854264C>T	uc002jyt.1	+	14	2364	c.1559C>T	c.(1558-1560)TCG>TTG	p.S520L	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	520					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6																		---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12546774	12546774	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12546774C>A	uc002kre.2	-	3	549	c.502G>T	c.(502-504)GGT>TGT	p.G168C	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G48C|SPIRE1_uc010wzx.1_Intron|SPIRE1_uc010wzy.1_Missense_Mutation_p.G168C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	168	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0																		---	---	---	---
PCSK4	54760	broad.mit.edu	37	19	1481952	1481952	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1481952G>A	uc002ltb.1	-	15	2136	c.2074C>T	c.(2074-2076)CGC>TGC	p.R692C	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc002lsy.3_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|C19orf25_uc002lsx.1_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.R179C|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	692	FU.				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4499495	4499495	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4499495G>A	uc002mao.2	+	14	1676	c.1583G>A	c.(1582-1584)CGT>CAT	p.R528H	HDGFRP2_uc002map.2_Missense_Mutation_p.R528H|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'UTR|HDGFRP2_uc002maq.1_5'UTR	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	528	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0																		---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11123694	11123694	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11123694G>A	uc002mqf.3	+	16	2628	c.2344G>A	c.(2344-2346)GGC>AGC	p.G782S	SMARCA4_uc010dxp.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqg.1_Missense_Mutation_p.G782S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G782S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G2S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	782	Helicase ATP-binding.|ATP (Potential).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14000666	14000666	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14000666C>A	uc002mxl.1	-	6	1062	c.1003G>T	c.(1003-1005)GGG>TGG	p.G335W	C19orf57_uc002mxk.1_Missense_Mutation_p.G217W|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	335					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)															---	---	---	---
MAST3	23031	broad.mit.edu	37	19	18218412	18218412	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18218412C>T	uc002nhz.3	+	2	55	c.55C>T	c.(55-57)CCA>TCA	p.P19S		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	19							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5																		---	---	---	---
MAST3	23031	broad.mit.edu	37	19	18255980	18255980	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18255980C>T	uc002nhz.3	+	23	2893	c.2893C>T	c.(2893-2895)CGG>TGG	p.R965W		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	965	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19049214	19049214	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19049214C>T	uc002nku.2	-	3	904	c.251G>A	c.(250-252)CGC>CAC	p.R84H	HOMER3_uc010eby.2_Missense_Mutation_p.R84H|HOMER3_uc010ebz.2_Missense_Mutation_p.R84H|HOMER3_uc002nkw.2_Missense_Mutation_p.R84H|HOMER3_uc002nkv.2_Missense_Mutation_p.R84H	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34791377	34791377	+	5'UTR	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34791377G>A	uc002nvd.3	+	2					KIAA0355_uc010edk.1_5'UTR	NM_014686	NP_055501			hypothetical protein LOC9710											ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36227984	36227984	+	Intron	SNP	C	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36227984C>G	uc010eei.2	+							NM_014727	NP_055542			myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
ZNF225	7768	broad.mit.edu	37	19	44635463	44635463	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44635463C>A	uc002oyj.1	+	5	939	c.696C>A	c.(694-696)TTC>TTA	p.F232L	ZNF225_uc010eje.1_Missense_Mutation_p.F149L|ZNF225_uc010ejf.1_Missense_Mutation_p.F232L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	232	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)																---	---	---	---
RUVBL2	10856	broad.mit.edu	37	19	49518414	49518414	+	Intron	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49518414C>T	uc002plr.1	+						RUVBL2_uc002plq.1_Intron|RUVBL2_uc002pls.1_Intron|RUVBL2_uc010emn.1_Intron|RUVBL2_uc010yac.1_Intron	NM_006666	NP_006657			RuvB-like 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)														---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50398344	50398344	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50398344G>A	uc002pqt.1	-	4	424	c.346C>T	c.(346-348)CGC>TGC	p.R116C	IL4I1_uc002pqv.1_Missense_Mutation_p.R125C|IL4I1_uc010eno.1_Missense_Mutation_p.R124C|IL4I1_uc002pqw.1_Missense_Mutation_p.R124C|IL4I1_uc002pqu.1_Missense_Mutation_p.R138C	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	116	FAD (By similarity).	Substrate (By similarity).				lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)														---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3214843	3214843	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3214843G>A	uc002wig.2	-	4	505	c.457C>T	c.(457-459)CGG>TGG	p.R153W	SLC4A11_uc010zqe.1_Missense_Mutation_p.R180W|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R137W	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	153	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13251272	13251272	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13251272G>A	uc010gce.1	+	2	266	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	87						extracellular region					0																		---	---	---	---
SLC24A3	57419	broad.mit.edu	37	20	19662610	19662610	+	Silent	SNP	C	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:19662610C>T	uc002wrl.2	+	10	1073	c.876C>T	c.(874-876)GAC>GAT	p.D292D		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	292	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1																		---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30742950	30742950	+	Silent	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30742950A>G	uc002wxj.2	+	13	1525	c.1290A>G	c.(1288-1290)GTA>GTG	p.V430V	TM9SF4_uc010zts.1_Silent_p.V337V|TM9SF4_uc002wxk.2_Silent_p.V413V|TM9SF4_uc010gdz.2_Intron	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	430	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33508432	33508432	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33508432T>A	uc002xbd.2	+	9	1184	c.1063T>A	c.(1063-1065)TGC>AGC	p.C355S	ACSS2_uc002xbc.2_Missense_Mutation_p.C260S|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.C368S|ACSS2_uc002xbe.2_Missense_Mutation_p.C63S|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	355					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62421407G>A	uc002ygv.1	-	2	905	c.704C>T	c.(703-705)CCG>CTG	p.P235L	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)																	---	---	---	---
SON	6651	broad.mit.edu	37	21	34918579	34918579	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34918579G>A	uc002yse.1	+	2	187	c.138G>A	c.(136-138)GCG>GCA	p.A46A	SON_uc002ysb.1_Silent_p.A46A|SON_uc002ysc.2_Silent_p.A46A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Silent_p.A46A	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	46					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
SON	6651	broad.mit.edu	37	21	34924325	34924325	+	Silent	SNP	T	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34924325T>C	uc002yse.1	+	3	2837	c.2788T>C	c.(2788-2790)TTG>CTG	p.L930L	SON_uc002ysb.1_Silent_p.L930L|SON_uc002ysc.2_Silent_p.L930L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	930	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
MX1	4599	broad.mit.edu	37	21	42824698	42824698	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42824698A>C	uc002yzh.2	+	18	2607	c.1660A>C	c.(1660-1662)AAG>CAG	p.K554Q	MX1_uc002yzi.2_Missense_Mutation_p.K554Q|MX1_uc010goq.2_Missense_Mutation_p.K554Q	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	554					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)																---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36685273	36685273	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36685273C>G	uc003apg.2	-	32	4646	c.4415G>C	c.(4414-4416)CGA>CCA	p.R1472P		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1472	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38061656	38061656	+	Silent	SNP	G	T	T			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38061656G>T	uc003atj.1	+	17	2483	c.1596G>T	c.(1594-1596)ACG>ACT	p.T532T	PDXP_uc003atm.1_Silent_p.T223T			Q9Y3L3	3BP1_HUMAN	SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);	Error:Variant_position_missing_in_Q9Y3L3_after_alignment					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
SMS	6611	broad.mit.edu	37	X	21995314	21995314	+	Silent	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21995314G>A	uc004dag.2	+	5	566	c.465G>A	c.(463-465)TCG>TCA	p.S155S	SMS_uc011mjq.1_Silent_p.S59S|SMS_uc004daf.1_Silent_p.S102S|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	155					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---
DMD	1756	broad.mit.edu	37	X	31854892	31854892	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31854892C>A	uc004dda.1	-	49	7387	c.7143G>T	c.(7141-7143)GAG>GAT	p.E2381D	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.E1037D|DMD_uc004dcx.2_Missense_Mutation_p.E1040D|DMD_uc004dcz.2_Missense_Mutation_p.E2258D|DMD_uc004dcy.1_Missense_Mutation_p.E2377D|DMD_uc004ddb.1_Missense_Mutation_p.E2373D|DMD_uc004ddd.1_5'UTR	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2381					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77529189	77529189	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77529189C>G	uc004edb.2	-	3	455	c.55G>C	c.(55-57)GAT>CAT	p.D19H	CYSLTR1_uc010nma.2_Missense_Mutation_p.D19H|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D19H	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	19	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)													---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128878049	128878049	+	Splice_Site	SNP	T	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128878049T>G	uc004eut.1	+	3	478	c.234_splice	c.e3+2	p.M78_splice	XPNPEP2_uc011mum.1_Splice_Site_p.M78_splice	NM_003399	NP_003390			X-prolyl aminopeptidase 2, membrane-bound						cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---
GPC4	2239	broad.mit.edu	37	X	132439867	132439867	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132439867G>A	uc004exc.1	-	6	1300	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	GPC4_uc011mvg.1_Missense_Mutation_p.A293V	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	363					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
G6PD	2539	broad.mit.edu	37	X	153763395	153763395	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153763395C>A	uc004fly.1	-	5	586	c.473G>T	c.(472-474)TGC>TTC	p.C158F	G6PD_uc004flx.1_Missense_Mutation_p.C188F	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	158					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154736649	154736649	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154736649A>G	uc004fnn.2	-	6	1071	c.905T>C	c.(904-906)ATT>ACT	p.I302T	TMLHE_uc004fno.2_Missense_Mutation_p.I302T|TMLHE_uc004fnp.3_Missense_Mutation_p.I302T	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	302					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
