Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
SPAG17	200162	broad.mit.edu	37	1	118584644	118584644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:118584644G>A	uc001ehk.2	-	21	2904	c.2836C>T	c.(2836-2838)CGA>TGA	p.R946*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	946	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTGCTAATCGATGTTGCTCT	0.368000												
PLEKHA6	22874	broad.mit.edu	37	1	204197879	204197879	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:204197879G>A	uc001hau.2	-	20	3179	c.2862C>T	c.(2860-2862)ATC>ATT	p.I954I		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	954										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGAGTGTCTTGATCCTCTCCA	0.552000												
TMCC2	9911	broad.mit.edu	37	1	205210967	205210967	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:205210967G>A	uc001hbz.1	+	3	986	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	TMCC2_uc010prf.1_Missense_Mutation_p.R103Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	181						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			agcagcagccggcgcaccaag	0.517000												
KIAA1383	54627	broad.mit.edu	37	1	232941162	232941162	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:232941162G>A	uc001hvh.2	+	1	525	c.393G>A	c.(391-393)GCG>GCA	p.A131A		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	Error:Variant_position_missing_in_Q9P2G4_after_alignment										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TCTCGTTTGCGGAGCCCGCGG	0.647000												
FAM188A	80013	broad.mit.edu	37	10	15879259	15879259	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:15879259T>C	uc001iod.1	-	6	741	c.520A>G	c.(520-522)ATG>GTG	p.M174V	FAM188A_uc001ioe.1_Missense_Mutation_p.M1V|FAM188A_uc001iof.1_Missense_Mutation_p.M174V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	174					apoptosis	nucleus	calcium ion binding			ovary(1)	1						TTTCCCCACATTGAATACTGG	0.328000												
VIM	7431	broad.mit.edu	37	10	17276730	17276730	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:17276730C>T	uc001iou.2	+	6	1334	c.921C>T	c.(919-921)GAC>GAT	p.D307D	VIM_uc001iov.1_Silent_p.D307D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.D307D|VIM_uc001ioy.1_Silent_p.D307D|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.D307D	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	307	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGAACAATGACGCCCTGCGCC	0.507000												
NSUN6	221078	broad.mit.edu	37	10	18840880	18840880	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:18840880C>T	uc010qcp.1	-	9	1361	c.943G>A	c.(943-945)GAA>AAA	p.E315K		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	315							methyltransferase activity|RNA binding			ovary(2)	2						TCAAAGGATTCTGGTAGAAAT	0.398000												
ZMYND17	118490	broad.mit.edu	37	10	75186022	75186022	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:75186022G>T	uc001jud.2	-	5	682	c.616C>A	c.(616-618)CTA>ATA	p.L206I	ZMYND17_uc001juc.2_Missense_Mutation_p.L206I|ZMYND17_uc009xrh.2_Missense_Mutation_p.L229I|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	206							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					TGACTAACTAGCACAGCATCC	0.547000												
OR51B5	282763	broad.mit.edu	37	11	5364062	5364062	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:5364062C>T	uc001map.1	-	1	693	c.693G>A	c.(691-693)GAG>GAA	p.E231E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTGGCCCTCTCCTCTCTGG	0.433000												
SCUBE2	57758	broad.mit.edu	37	11	9069049	9069049	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:9069049C>T	uc001mhh.1	-	15	1849	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H	SCUBE2_uc001mhi.1_Missense_Mutation_p.R619H|SCUBE2_uc001mhj.1_Missense_Mutation_p.R464H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	590						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCTGAGCGTGCGGATGGCTTT	0.562000												
SCUBE2	57758	broad.mit.edu	37	11	9069067	9069067	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:9069067C>A	uc001mhh.1	-	15	1831	c.1751G>T	c.(1750-1752)CGG>CTG	p.R584L	SCUBE2_uc001mhi.1_Missense_Mutation_p.R613L|SCUBE2_uc001mhj.1_Missense_Mutation_p.R458L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	584						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTTACGGAGCCGCTTCTCGGT	0.567000												
ZBTB3	79842	broad.mit.edu	37	11	62519821	62519821	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:62519821C>T	uc001nuz.2	-	2	1588	c.1466G>A	c.(1465-1467)CGA>CAA	p.R489Q		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	489	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CGTGGCATGTCGCCGTAGTGT	0.572000												
LRP5	4041	broad.mit.edu	37	11	68153890	68153890	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:68153890C>T	uc001ont.2	+	6	1197	c.1122C>T	c.(1120-1122)CAC>CAT	p.H374H	LRP5_uc009ysg.2_Translation_Start_Site	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	374	Beta-propeller 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ACATCCGGCACGCCATTGCCA	0.662000												
PPP1R12A	4659	broad.mit.edu	37	12	80214567	80214567	+	Silent	SNP	T	T	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr12:80214567T>A	uc001syz.2	-	8	1368	c.1101A>T	c.(1099-1101)TCA>TCT	p.S367S	PPP1R12A_uc010suc.1_Silent_p.S280S|PPP1R12A_uc001sza.2_Silent_p.S367S|PPP1R12A_uc010sud.1_Silent_p.S367S|PPP1R12A_uc001szb.2_Silent_p.S367S|PPP1R12A_uc001szc.2_Silent_p.S367S	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	367						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TTTCAGCTTCTGATTCCGAGT	0.343000												
CARS2	79587	broad.mit.edu	37	13	111315858	111315858	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr13:111315858C>T	uc001vrd.2	-	9	967	c.927G>A	c.(925-927)TTG>TTA	p.L309L	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	309					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTTTGGCGTGCAAATGCCCTG	0.438000												
PSME1	5720	broad.mit.edu	37	14	24607984	24607984	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:24607984C>T	uc001wmg.2	+	11	803	c.709C>T	c.(709-711)CTC>TTC	p.L237F	PSME1_uc001wmh.2_3'UTR	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	237					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		CTTCGAGAAGCTCAAGAAGCC	0.507000												
ADCY4	196883	broad.mit.edu	37	14	24798738	24798738	+	Nonsense_Mutation	SNP	G	G	A	rs140912494	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:24798738G>A	uc001wov.2	-	9	1225	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	ADCY4_uc001wow.2_Nonsense_Mutation_p.R407*|ADCY4_uc010toh.1_Nonsense_Mutation_p.R93*|ADCY4_uc001wox.2_Nonsense_Mutation_p.R407*|ADCY4_uc001woy.2_Nonsense_Mutation_p.R407*	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	407	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		ATGTGCACTCGCCTGGAAGGA	0.612000												
PNN	5411	broad.mit.edu	37	14	39650001	39650001	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:39650001A>C	uc001wuw.3	+	9	1185	c.1088A>C	c.(1087-1089)GAG>GCG	p.E363A		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	363	Potential.|Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caggaaatggaggttaagatg	0.104000												
SRRM2	23524	broad.mit.edu	37	16	2817757	2817757	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:2817757C>T	uc002crk.2	+	11	7777	c.7228C>T	c.(7228-7230)CCA>TCA	p.P2410S	SRRM2_uc002crj.1_Missense_Mutation_p.P2314S|SRRM2_uc002crl.1_Missense_Mutation_p.P2410S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2314S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2410	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCCAGAACACCACCGTCTGC	0.607000												
MEFV	4210	broad.mit.edu	37	16	3299631	3299631	+	Missense_Mutation	SNP	G	G	A	rs104895116		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:3299631G>A	uc002cun.1	-	3	1100	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	354					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	TCCTGGCACCGGGGGCAGCCA	0.647000												
ARMC5	79798	broad.mit.edu	37	16	31476013	31476013	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:31476013G>A	uc002ecc.2	+	4	2198	c.1669G>A	c.(1669-1671)GGC>AGC	p.G557S	ARMC5_uc010vfn.1_Missense_Mutation_p.G652S|ARMC5_uc010vfo.1_Missense_Mutation_p.G589S|ARMC5_uc002eca.3_Missense_Mutation_p.G557S|ARMC5_uc010vfp.1_Missense_Mutation_p.G365S|ARMC5_uc002ecb.2_Missense_Mutation_p.G557S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	557							binding			pancreas(1)	1						CTATGTGACCGGCGCACCGGG	0.701000												
ZC3H18	124245	broad.mit.edu	37	16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:88688687C>T	uc002fky.2	+	9	1758	c.1558C>T	c.(1558-1560)CGC>TGC	p.R520C	ZC3H18_uc010voz.1_Missense_Mutation_p.R544C|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	520						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602000												
ATP2A3	489	broad.mit.edu	37	17	3854675	3854675	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:3854675G>A	uc002fxb.1	-	5	484	c.333C>T	c.(331-333)AAC>AAT	p.N111N	ATP2A3_uc002fwx.1_Silent_p.N111N|ATP2A3_uc002fwy.1_Silent_p.N111N|ATP2A3_uc002fwz.1_Silent_p.N111N|ATP2A3_uc002fxa.1_Silent_p.N111N|ATP2A3_uc002fxc.1_Silent_p.N111N|ATP2A3_uc002fxd.1_Silent_p.N111N	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	111	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACTCTCGGCGTTGCGTTCCT	0.652000												
PLD6	201164	broad.mit.edu	37	17	17106107	17106107	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:17106107C>T	uc002gqz.2	-	2	765	c.733G>A	c.(733-735)GGC>AGC	p.G245S	PLD6_uc010cpn.2_RNA	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	phospholipase D6	245	Cytoplasmic (Potential).				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity				0						CTGGAGGTGCCGCAAGTTCTG	0.542000												
TRIM16L	147166	broad.mit.edu	37	17	18631020	18631020	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:18631020G>A	uc002gug.1	+	7	837	c.150G>A	c.(148-150)AAG>AAA	p.K50K	TRIM16L_uc010vyf.1_Silent_p.K104K|TRIM16L_uc002guh.1_Silent_p.K50K|TRIM16L_uc010cqg.1_Silent_p.K152K|TRIM16L_uc002gui.1_Silent_p.K50K|TRIM16L_uc010vyg.1_Silent_p.K50K|TRIM16L_uc010vyh.1_Silent_p.K50K	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	50						cytoplasm					0						AGAAGAGTAAGCAGGAGCTGG	0.577000												
TNS4	84951	broad.mit.edu	37	17	38652509	38652509	+	Missense_Mutation	SNP	C	C	T	rs147274319	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:38652509C>T	uc010cxb.2	-	2	333	c.169G>A	c.(169-171)GTG>ATG	p.V57M		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	57					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)			ATGCAGGGCACGGGGGCCATC	0.697000												
CACNA1G	8913	broad.mit.edu	37	17	48674155	48674155	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:48674155G>A	uc002irk.1	+	16	3501	c.3129G>A	c.(3127-3129)ACG>ACA	p.T1043T	CACNA1G_uc002iri.1_Silent_p.T1043T|CACNA1G_uc002irj.1_Silent_p.T1020T|CACNA1G_uc002irl.1_Silent_p.T1020T|CACNA1G_uc002irm.1_Silent_p.T1020T|CACNA1G_uc002irn.1_Silent_p.T1020T|CACNA1G_uc002iro.1_Silent_p.T1020T|CACNA1G_uc002irp.1_Silent_p.T1043T|CACNA1G_uc002irq.1_Silent_p.T1020T|CACNA1G_uc002irr.1_Silent_p.T1043T|CACNA1G_uc002irs.1_Silent_p.T1043T|CACNA1G_uc002irt.1_Silent_p.T1043T|CACNA1G_uc002irv.1_Silent_p.T1043T|CACNA1G_uc002irw.1_Silent_p.T1020T|CACNA1G_uc002iru.1_Silent_p.T1020T|CACNA1G_uc002irx.1_Silent_p.T956T|CACNA1G_uc002iry.1_Silent_p.T956T|CACNA1G_uc002irz.1_Silent_p.T956T|CACNA1G_uc002isa.1_Silent_p.T956T|CACNA1G_uc002isb.1_Silent_p.T956T|CACNA1G_uc002isc.1_Silent_p.T956T|CACNA1G_uc002isd.1_Silent_p.T956T|CACNA1G_uc002ise.1_Silent_p.T956T|CACNA1G_uc002isf.1_Silent_p.T956T|CACNA1G_uc002isg.1_Silent_p.T956T|CACNA1G_uc002ish.1_Silent_p.T956T|CACNA1G_uc002isi.1_Silent_p.T933T|CACNA1G_uc002isj.2_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1043	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATCCACACGGCCGCCACAC	0.706000												
RGS9	8787	broad.mit.edu	37	17	63156397	63156397	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:63156397C>T	uc002jfe.2	+	4	362	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	RGS9_uc010dem.2_Silent_p.Y84Y|RGS9_uc002jfd.2_Silent_p.Y84Y|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	84	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						GCTACATTTACCCCCTGCAAG	0.502000												
ABCA5	23461	broad.mit.edu	37	17	67273963	67273963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:67273963G>A	uc002jif.2	-	18	3631	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	ABCA5_uc002jic.2_Nonsense_Mutation_p.Q28*|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q805*|ABCA5_uc002jih.2_Nonsense_Mutation_p.Q805*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.Q805*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	805					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCCAGTGGCTGCTGAGTAAAT	0.343000												
CARD14	79092	broad.mit.edu	37	17	78163619	78163619	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:78163619G>A	uc002jxw.1	+	6	1106	c.911G>A	c.(910-912)CGC>CAC	p.R304H	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R304H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.R67H|CARD14_uc010dhu.1_Missense_Mutation_p.R102H	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	304	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTGGAGCGCATCCACTCG	0.687000												
AQP4	361	broad.mit.edu	37	18	24436277	24436277	+	Silent	SNP	A	A	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr18:24436277A>G	uc002kwa.2	-	5	933	c.870T>C	c.(868-870)GAT>GAC	p.D290D	AQP4_uc002kvz.2_Silent_p.D268D	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	290	Cytoplasmic (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAATCAGGTCATCCGTCTCTA	0.473000												
EVI5L	115704	broad.mit.edu	37	19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:7916351G>A	uc002min.2	+	7	939	c.785G>A	c.(784-786)CGT>CAT	p.R262H	EVI5L_uc010xjz.1_Missense_Mutation_p.R262H|EVI5L_uc002mio.1_5'UTR	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	262	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						ACCCACTTCCGTTCCCAAAGC	0.637000												
ELL	8178	broad.mit.edu	37	19	18576690	18576690	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:18576690C>T	uc002njh.2	-	3	294	c.222G>A	c.(220-222)GCG>GCA	p.A74A	ELL_uc010ebq.2_Silent_p.A17A|ELL_uc002njg.2_5'UTR	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	74					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGAACGTCCGCGCCTCTGCGG	0.672000			T	MLL	AL							
UPF1	5976	broad.mit.edu	37	19	18963058	18963058	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:18963058C>G	uc002nkg.2	+	6	1200	c.925C>G	c.(925-927)CTG>GTG	p.L309V	UPF1_uc002nkf.2_Missense_Mutation_p.L309V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	309	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATTCGGGCCCCTGGTCAAGCT	0.632000												
ZNF780B	163131	broad.mit.edu	37	19	40540586	40540586	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:40540586C>T	uc002omu.2	-	5	2245	c.2180G>A	c.(2179-2181)TGT>TAT	p.C727Y	ZNF780B_uc002omv.2_Missense_Mutation_p.C579Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	727	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCATTCTTTACATTCAAAGGG	0.413000												
KPTN	11133	broad.mit.edu	37	19	47984033	47984033	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:47984033T>C	uc002pgy.2	-	6	687	c.583A>G	c.(583-585)ACG>GCG	p.T195A	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	195					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GTCAGGTTCGTCAGCTCTGGG	0.587000												
HRC	3270	broad.mit.edu	37	19	49657413	49657413	+	Missense_Mutation	SNP	C	C	T	rs139367000		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:49657413C>T	uc002pmv.2	-	1	1269	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	361	1-4.|4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTGGTGCCAACGTTCAGTGGA	0.547000												
ZNF582	147948	broad.mit.edu	37	19	56895714	56895714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:56895714G>A	uc002qmz.1	-	5	1231	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	ZNF582_uc002qmy.2_Nonsense_Mutation_p.Q389*	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	358	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q358H(1)		ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAATTCTCTGATGTCGTATA	0.418000												
NRXN1	9378	broad.mit.edu	37	2	50779727	50779727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:50779727G>T	uc010fbq.2	-	9	3354	c.1877C>A	c.(1876-1878)TCA>TAA	p.S626*	NRXN1_uc002rxb.3_Nonsense_Mutation_p.S258*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.S586*|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATTACCTGACCGTCCGTC	0.428000												
ST6GAL2	84620	broad.mit.edu	37	2	107446537	107446537	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:107446537A>G	uc002tdq.2	-	5	1422	c.1303T>C	c.(1303-1305)TCT>CCT	p.S435P	ST6GAL2_uc002tdr.2_Missense_Mutation_p.S435P|ST6GAL2_uc002tds.3_Missense_Mutation_p.S435P	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	435	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						AAACCAGAAGATGGTGGGTTT	0.358000												
KIF5C	3800	broad.mit.edu	37	2	149847638	149847638	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:149847638G>A	uc010zbu.1	+	16	2199	c.1831G>A	c.(1831-1833)GCC>ACC	p.A611T	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.A163T	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	611					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTCGAGAGCGCCCAGATGGA	0.582000												
RAPGEF4	11069	broad.mit.edu	37	2	173855568	173855568	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:173855568G>A	uc002uhv.3	+	15	1592	c.1405G>A	c.(1405-1407)GAA>AAA	p.E469K	RAPGEF4_uc002uhw.3_Missense_Mutation_p.E325K|RAPGEF4_uc010zec.1_Missense_Mutation_p.E316K|RAPGEF4_uc010zed.1_Missense_Mutation_p.E298K|RAPGEF4_uc010zee.1_Missense_Mutation_p.E316K|RAPGEF4_uc010fqo.2_Missense_Mutation_p.E298K|RAPGEF4_uc010zef.1_Missense_Mutation_p.E249K|RAPGEF4_uc010zeg.1_Missense_Mutation_p.E296K|RAPGEF4_uc010zeh.1_Missense_Mutation_p.E249K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	469	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGACTTAAAGAACATGACCA	0.433000												
ABCA12	26154	broad.mit.edu	37	2	215891623	215891623	+	Silent	SNP	A	A	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:215891623A>G	uc002vew.2	-	10	1321	c.1101T>C	c.(1099-1101)AAT>AAC	p.N367N	ABCA12_uc002vev.2_Silent_p.N49N|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	367					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTGATATATTTAAGAGGG	0.358000												
PROKR2	128674	broad.mit.edu	37	20	5294595	5294595	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr20:5294595C>T	uc010zqw.1	-	1	421	c.421G>A	c.(421-423)GTC>ATC	p.V141I	PROKR2_uc010zqx.1_Missense_Mutation_p.V141I|PROKR2_uc010zqy.1_Missense_Mutation_p.V141I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	141	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGGTGGAGACGTAGAGGGAG	0.607000										HNSCC(71;0.22)		
EP300	2033	broad.mit.edu	37	22	41573763	41573763	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr22:41573763G>A	uc003azl.3	+	31	6443	c.6048G>A	c.(6046-6048)ATG>ATA	p.M2016I		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2016	Interaction with HTLV-1 Tax.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAGCCATGATGTCAGTGGCCC	0.577000			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
CACNA1D	776	broad.mit.edu	37	3	53752408	53752408	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:53752408A>T	uc003dgv.3	+	10	1634	c.1471A>T	c.(1471-1473)AGT>TGT	p.S491C	CACNA1D_uc003dgu.3_Missense_Mutation_p.S491C|CACNA1D_uc003dgy.3_Missense_Mutation_p.S491C|CACNA1D_uc003dgw.3_Missense_Mutation_p.S138C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	491	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGCTGTGGAAGTCTCTGGTG	0.612000												
KIAA1407	57577	broad.mit.edu	37	3	113699559	113699559	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:113699559G>A	uc003eax.2	-	14	2392	c.2245C>T	c.(2245-2247)CTA>TTA	p.L749L	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	749										ovary(2)	2						TTTTTCCTTAGCAAGACCCTT	0.403000												
MYLK	4638	broad.mit.edu	37	3	123471320	123471320	+	Silent	SNP	G	G	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:123471320G>T	uc003ego.2	-	5	513	c.231C>A	c.(229-231)GGC>GGA	p.G77G	MYLK_uc011bjw.1_Silent_p.G77G|MYLK_uc003egp.2_Silent_p.G77G|MYLK_uc003egq.2_Silent_p.G77G|MYLK_uc003egr.2_Silent_p.G77G|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Silent_p.G77G|MYLK_uc003egu.1_Silent_p.G87G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	77	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGAAGCGGCCCCCGCTGG	0.532000												
KALRN	8997	broad.mit.edu	37	3	124210189	124210189	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:124210189C>T	uc003ehg.2	+	31	4728	c.4601C>T	c.(4600-4602)ACC>ATC	p.T1534I	KALRN_uc010hrv.1_Missense_Mutation_p.T1525I|KALRN_uc003ehf.1_Missense_Mutation_p.T1534I|KALRN_uc011bjy.1_Missense_Mutation_p.T1525I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1534	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTGGGTGTGACCGAGCACGTG	0.577000												
COPG	22820	broad.mit.edu	37	3	128973560	128973560	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:128973560G>A	uc003els.2	+	6	473	c.373G>A	c.(373-375)GTG>ATG	p.V125M	COPG_uc010htb.2_Missense_Mutation_p.V31M	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	125					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						GGGCCCGGCCGTGCGAGCCCT	0.557000												
NCEH1	57552	broad.mit.edu	37	3	172365747	172365747	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:172365747G>A	uc011bpx.1	-	2	530	c.392C>T	c.(391-393)CCG>CTG	p.P131L	NCEH1_uc003fig.2_Missense_Mutation_p.P131L|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	99	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						TTCGGGCTTCGGAGGGCCTTC	0.527000												
LETM1	3954	broad.mit.edu	37	4	1843232	1843232	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:1843232C>G	uc003gdv.2	-	3	733	c.436G>C	c.(436-438)GAG>CAG	p.E146Q	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.E146Q	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	146	Mitochondrial intermembrane (Potential).				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCACCTCTGCGGGGGGG	0.602000												
FAM193A	8603	broad.mit.edu	37	4	2701681	2701681	+	Missense_Mutation	SNP	A	A	G	rs146890120		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:2701681A>G	uc010icl.2	+	17	3260	c.2909A>G	c.(2908-2910)AAT>AGT	p.N970S	FAM193A_uc010ick.2_Missense_Mutation_p.N1170S|FAM193A_uc003gfd.2_Missense_Mutation_p.N970S|FAM193A_uc011bvm.1_Missense_Mutation_p.N992S|FAM193A_uc011bvn.1_Missense_Mutation_p.N970S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.N824S	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	970										ovary(3)	3						AACATCCACAATGGCTCACTA	0.512000												
NSUN7	79730	broad.mit.edu	37	4	40753002	40753002	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:40753002C>T	uc003gvj.3	+	2	787	c.292C>T	c.(292-294)CTG>TTG	p.L98L	NSUN7_uc003gvh.2_Silent_p.L98L|NSUN7_uc003gvi.3_Silent_p.L98L	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TTTCAGTGCCCTGAAATGTGA	0.473000												
DCHS2	54798	broad.mit.edu	37	4	155163809	155163809	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:155163809C>A	uc003inw.2	-	22	5692	c.5692G>T	c.(5692-5694)GTG>TTG	p.V1898L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1898	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAATTTCCACTGCTTCAGAG	0.323000												
TRIO	7204	broad.mit.edu	37	5	14406052	14406052	+	Silent	SNP	C	C	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:14406052C>G	uc003jff.2	+	32	4818	c.4812C>G	c.(4810-4812)CCC>CCG	p.P1604P	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.P1253P	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1604					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGAAGGAGCCCATTCACATCC	0.582000												
CDH18	1016	broad.mit.edu	37	5	19747086	19747086	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:19747086G>T	uc003jgc.2	-	3	865	c.488C>A	c.(487-489)CCA>CAA	p.P163Q	CDH18_uc003jgd.2_Missense_Mutation_p.P163Q|CDH18_uc011cnm.1_Missense_Mutation_p.P163Q	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	163	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACAATGTATGGTCCATCTGT	0.348000												
ZFR	51663	broad.mit.edu	37	5	32397359	32397359	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:32397359T>C	uc003jhr.1	-	10	1879	c.1799A>G	c.(1798-1800)CAC>CGC	p.H600R	MIR579_hsa-mir-579|MI0003586_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	600					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		CCCTTTTAAGTGCATCTCCTT	0.348000												
GHR	2690	broad.mit.edu	37	5	42700016	42700016	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:42700016C>A	uc003jmt.2	+	6	573	c.530C>A	c.(529-531)GCA>GAA	p.A177E	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	177	Extracellular (Potential).|Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATGGGAAGCACCACGCAAT	0.413000												
PCDHB7	56129	broad.mit.edu	37	5	140554232	140554232	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:140554232C>T	uc003lit.2	+	1	1990	c.1816C>T	c.(1816-1818)CTG>TTG	p.L606L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	606	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGTACCAGCTGCTCAAGGC	0.711000												
PCDHB12	56124	broad.mit.edu	37	5	140588662	140588662	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:140588662G>A	uc003liz.2	+	1	372	c.183G>A	c.(181-183)TCG>TCA	p.S61S	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	61	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGTCTTCGCGGGGGGCTC	0.512000												
IL12B	3593	broad.mit.edu	37	5	158750330	158750330	+	Silent	SNP	G	G	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:158750330G>C	uc003lxr.1	-	3	138	c.96C>G	c.(94-96)GTC>GTG	p.V32V		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	32	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAATTCTACGACATAAACTG	0.323000												
SLC34A1	6569	broad.mit.edu	37	5	176815004	176815004	+	Silent	SNP	G	G	A	rs150592440	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:176815004G>A	uc003mgk.3	+	7	755	c.654G>A	c.(652-654)GCG>GCA	p.A218A		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	218	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GGGCCTTCGCGGGGGCCACGG	0.657000												
TRIM38	10475	broad.mit.edu	37	6	25969609	25969609	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:25969609G>A	uc003nfm.2	+	4	903	c.468G>A	c.(466-468)GAG>GAA	p.E156E	TRIM38_uc003nfn.2_Silent_p.E156E	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	156					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						GATGTACGGAGCAGAAGCTGT	0.393000												
ZNF311	282890	broad.mit.edu	37	6	28967286	28967286	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:28967286A>T	uc003nlu.2	-	5	801	c.288T>A	c.(286-288)AAT>AAA	p.N96K	ZNF311_uc011dlk.1_Missense_Mutation_p.N4K|ZNF311_uc003nlv.2_Missense_Mutation_p.N4K	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TGTTCCCATAATTTTCCAACA	0.358000												
TUBB	203068	broad.mit.edu	37	6	30691661	30691661	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:30691661C>T	uc003nrl.2	+	4	949	c.822C>T	c.(820-822)ACC>ACT	p.T274T	TUBB_uc003nrk.1_Silent_p.T274T|TUBB_uc011dmq.1_Silent_p.T202T	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	274					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CCCCTCTCACCAGCCGTGGAA	0.587000												
MAP3K7	6885	broad.mit.edu	37	6	91257851	91257851	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:91257851T>G	uc003pnz.1	-	10	1157	c.995A>C	c.(994-996)GAC>GCC	p.D332A	MAP3K7_uc003poa.1_Missense_Mutation_p.D332A|MAP3K7_uc003pob.1_Missense_Mutation_p.D332A|MAP3K7_uc003poc.1_Missense_Mutation_p.D332A	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	332					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	p.D332N(1)		ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CATATTAGTGTCACTTTTGTT	0.343000												
LAMA2	3908	broad.mit.edu	37	6	129634005	129634005	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:129634005G>A	uc003qbn.2	+	23	3280	c.3175_splice	c.e23-1	p.A1059_splice	LAMA2_uc003qbo.2_Splice_Site_p.A1059_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCCTCTATAGGCTTGTAACT	0.323000												
UTRN	7402	broad.mit.edu	37	6	144837465	144837465	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:144837465T>A	uc003qkt.2	+	37	5437	c.5345T>A	c.(5344-5346)ATA>AAA	p.I1782K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1782					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGACATAGAAAATATG	0.348000												
TULP4	56995	broad.mit.edu	37	6	158735187	158735187	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:158735187G>A	uc003qrf.2	+	1	1496	c.139G>A	c.(139-141)GCC>ACC	p.A47T	TULP4_uc011efo.1_Missense_Mutation_p.A47T|TULP4_uc003qrg.2_Missense_Mutation_p.A47T	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	47					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGCTGGCTGGCCACGGGCAA	0.582000												
SUN1	23353	broad.mit.edu	37	7	891106	891106	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:891106C>T	uc011jvp.1	+	7	823	c.744C>T	c.(742-744)GCC>GCT	p.A248A	GET4_uc003sjj.1_5'Flank|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.A153A|SUN1_uc011jvr.1_Intron|SUN1_uc003sji.2_Silent_p.A86A|SUN1_uc003sjk.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	275	SYNE2-binding.|Nuclear.|EMD-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						TTTGGCTGGCCGTGGTTGCTC	0.557000												
CYP2W1	54905	broad.mit.edu	37	7	1028295	1028295	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:1028295G>A	uc003sjq.1	+	9	1323	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	CYP2W1_uc003sjr.1_3'UTR	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	437					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTGGGGAGCGCCTGGCCAGG	0.721000												
FBXL18	80028	broad.mit.edu	37	7	5521541	5521541	+	Silent	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:5521541C>T	uc003son.3	-	5	2116	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	Error:Variant_position_missing_in_Q96ME1_after_alignment										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CGACGTTTAACGCGGGCCGCT	0.637000												
AEBP1	165	broad.mit.edu	37	7	44153426	44153426	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:44153426C>A	uc003tkb.2	+	21	3348	c.3043C>A	c.(3043-3045)CAG>AAG	p.Q1015K	AEBP1_uc003tkc.3_Missense_Mutation_p.Q590K|AEBP1_uc003tkd.2_Missense_Mutation_p.Q265K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1015	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GACCCCCCAACAGCGACGCCT	0.667000												
PKD1L1	168507	broad.mit.edu	37	7	47944049	47944049	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:47944049A>T	uc003tny.1	-	12	1857	c.1857T>A	c.(1855-1857)GAT>GAA	p.D619E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	619	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTAGGCAACATCTGTGCCGA	0.587000												
CACNA2D1	781	broad.mit.edu	37	7	81579730	81579730	+	Missense_Mutation	SNP	C	C	T	rs138331326		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:81579730C>T	uc003uhr.1	-	39	3510	c.3254G>A	c.(3253-3255)GGC>GAC	p.G1085D	uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Missense_Mutation_p.G297D	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1097	Cytoplasmic (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTGTGTGCTGCCAGATACCAG	0.448000												
FBXO24	26261	broad.mit.edu	37	7	100198354	100198354	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:100198354G>T	uc003uvm.1	+	10	1868	c.1575G>T	c.(1573-1575)CAG>CAT	p.Q525H	FBXO24_uc003uvn.1_Missense_Mutation_p.Q163H|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.Q563H|FBXO24_uc011kka.1_Missense_Mutation_p.Q513H|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	525						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTCAGCCAGATCCACAGTT	0.652000												
SLC26A3	1811	broad.mit.edu	37	7	107408041	107408041	+	Missense_Mutation	SNP	G	G	A	rs144817916		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:107408041G>A	uc003ver.2	-	20	2465	c.2254C>T	c.(2254-2256)CGT>TGT	p.R752C	SLC26A3_uc003ves.2_Missense_Mutation_p.R639C	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	752					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						ACCCGATTACGTAATCCTCCA	0.343000												
LZTS1	11178	broad.mit.edu	37	8	20110844	20110844	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr8:20110844C>T	uc003wzr.2	-	2	709	c.598G>A	c.(598-600)GTG>ATG	p.V200M	LZTS1_uc010ltg.1_Missense_Mutation_p.V200M	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	200					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTGGGTCCCACGGGTGTGACC	0.637000												
TSTA3	7264	broad.mit.edu	37	8	144696589	144696589	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr8:144696589C>T	uc003yza.2	-	6	535	c.499G>A	c.(499-501)GCT>ACT	p.A167T	TSTA3_uc003yzb.2_Missense_Mutation_p.A167T	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	167					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGATGACAGCGGTGAAGGTG	0.662000												
TTC39B	158219	broad.mit.edu	37	9	15185355	15185355	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:15185355C>T	uc003zlr.1	-	16	1460	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	TTC39B_uc003zlq.1_Missense_Mutation_p.E416K|TTC39B_uc011lmp.1_Missense_Mutation_p.E348K|TTC39B_uc010mie.1_Missense_Mutation_p.E445K|TTC39B_uc011lmq.1_Missense_Mutation_p.E434K|TTC39B_uc011lmr.1_Missense_Mutation_p.E378K|TTC39B_uc003zlp.1_Missense_Mutation_p.E30K	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	447							binding			ovary(1)	1						GCAAACTTCTCAGTAGGGATA	0.507000												
RAB14	51552	broad.mit.edu	37	9	123945660	123945660	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:123945660C>G	uc004blc.2	-	6	824	c.368G>C	c.(367-369)GGA>GCA	p.G123A		NM_016322	NP_057406	P61106	RAB14_HUMAN	GTPase Rab14	123					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity				0						TGCTTTATTTCCTATGAGAAT	0.328000												
FPGS	2356	broad.mit.edu	37	9	130566591	130566591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:130566591C>T	uc004bsg.1	+	2	216	c.166C>T	c.(166-168)CAG>TAG	p.Q56*	FPGS_uc004bsf.1_RNA|FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Nonsense_Mutation_p.Q56*|FPGS_uc004bsi.1_Nonsense_Mutation_p.Q6*	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	56					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	CAATACCCTGCAGACCAATGC	0.602000												
MSL3	10943	broad.mit.edu	37	X	11778528	11778528	+	Silent	SNP	T	T	C			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:11778528T>C	uc004cuw.2	+	3	297	c.192T>C	c.(190-192)GAT>GAC	p.D64D	MSL3_uc004cuv.1_Silent_p.D64D|MSL3_uc004cux.2_Silent_p.D5D|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Silent_p.D52D|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	64	Chromo.				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTAGCTGGGATAGATGGGCAG	0.378000												
FAM47A	158724	broad.mit.edu	37	X	34149084	34149084	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:34149084G>A	uc004ddg.2	-	1	1345	c.1312C>T	c.(1312-1314)CTG>TTG	p.L438L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	438										ovary(4)|central_nervous_system(1)	5						ACGTCCTTCAGCGTCCTCCCA	0.552000												
FOXR2	139628	broad.mit.edu	37	X	55650539	55650539	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:55650539C>A	uc004duo.2	+	1	707	c.395C>A	c.(394-396)CCA>CAA	p.P132Q		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	132					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3						GAGTCTCTGCCATCTTCCTCC	0.502000												
NAP1L2	4674	broad.mit.edu	37	X	72433489	72433489	+	Silent	SNP	G	G	A			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:72433489G>A	uc004ebi.2	-	1	1196	c.840C>T	c.(838-840)GGC>GGT	p.G280G	NAP1L2_uc011mqj.1_Silent_p.G138G	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	280					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					TGAGGGGCTCGCCAGGATCTG	0.363000												
RGAG1	57529	broad.mit.edu	37	X	109697186	109697186	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:109697186C>T	uc004eor.1	+	3	3587	c.3341C>T	c.(3340-3342)GCC>GTC	p.A1114V	RGAG1_uc011msr.1_Missense_Mutation_p.A1114V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1114										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AACATCACAGCCTCTGGATCA	0.517000												
PNCK	139728	broad.mit.edu	37	X	152937033	152937033	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:152937033C>T	uc011myu.1	-	6	944	c.758G>A	c.(757-759)GGC>GAC	p.G253D	PNCK_uc011myt.1_Missense_Mutation_p.G187D|PNCK_uc004fia.2_Missense_Mutation_p.G182D|PNCK_uc004fhz.3_Missense_Mutation_p.G68D|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G197D|PNCK_uc011myw.1_Missense_Mutation_p.G197D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	170	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCGGTGCCTAGCATGTT	0.602000												
DLD	1738	broad.mit.edu	37	7	107558368	107558368	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:107558368delG	uc003vet.2	+	12	1347	c.1237_splice	c.e12-1	p.G413_splice	DLD_uc011kmg.1_Splice_Site_p.G365_splice|DLD_uc011kmh.1_Splice_Site_p.G390_splice|DLD_uc011kmi.1_Splice_Site_p.G314_splice	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor						branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GACTGTCACAGGGTATTGAGT	0.388												
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Frame_Shift_Del	DEL	C	C	-	rs17882252		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:7574012delC	uc002gim.2	-	10	1209	c.1015delG	c.(1015-1017)GAGfs	p.E339fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.E207fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.E339fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	339	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E339*(10)|p.0?(7)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGAACATCTCGAAGCGCTCA	0.468		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ANKRD23	200539	broad.mit.edu	37	2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:97505817delG	uc002sxa.2	-	7	669	c.640delC	c.(640-642)CTGfs	p.L214fs	ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Frame_Shift_Del_p.L172fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	diabetes related ankyrin repeat protein	214	ANK 3.					nucleus				ovary(1)	1						GCCACGTGCAGGGGGGTGCTC	0.637												
DLD	1738	broad.mit.edu	37	7	107558368	107558368	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:107558368delG	uc003vet.2	+	12	1347	c.1237_splice	c.e12-1	p.G413_splice	DLD_uc011kmg.1_Splice_Site_p.G365_splice|DLD_uc011kmh.1_Splice_Site_p.G390_splice|DLD_uc011kmi.1_Splice_Site_p.G314_splice	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor						branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GACTGTCACAGGGTATTGAGT	0.388												
PGM1	5236	broad.mit.edu	37	1	64089203	64089203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:64089202_64089202CT>C	uc010ooz.2	+	0	316	c.71_71CT>C	c.(70-72)actfs	p.T24fs	PGM1_uc001dbh.3_Intron|PGM1_uc010ooy.2_Intron	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	6					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTCTGTTGACTTTTGCTACA	0.433												
MUC6	4588	broad.mit.edu	37	11	1016750	1016760	+	Frame_Shift_Del	DEL	CACCAAGGAGG	CACCAAGGAGG	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:1016749_1016759TCACCAAGGAGG>T	uc001lsw.2	-	30	6093_6103	c.6042_6052CCTCCTTGGTGA>A	c.(6040-6054)acctccttggtgactfs	p.T2014fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2014	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTTGGAGTCACCAAGGAGGTGGAGAAAG	0.540												
SLITRK5	26050	broad.mit.edu	37	13	88327806	88327806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr13:88327805_88327805TG>T	uc001vln.3	+	1	381	c.162_162TG>T	c.(160-162)tgtfs	p.C54fs	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.C54fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	54						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATGTCCTTGTGAGGAAAAGG	0.473												
BLM	641	broad.mit.edu	37	15	91312405	91312406	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr15:91312404_91312405CTA>C	uc002bpr.3	+	10	2446_2447	c.2349_2350CTA>C	c.(2347-2352)ctctatfs	p.L783fs	BLM_uc010uqh.2_Frame_Shift_Del_p.L783fs|BLM_uc010uqi.2_Frame_Shift_Del_p.L408fs|BLM_uc010bnx.3_Frame_Shift_Del_p.L783fs	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	783	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding	p.Y784C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGGAGAATCTCTATGAGAGGAA	0.371			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome			
CERK	64781	broad.mit.edu	37	22	47089393	47089394	+	Frame_Shift_Ins	INS	-	-	CAAAG			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr22:47089392_47089393A>ACAAAG	uc003bia.3	-	9	1164_1165	c.1057_1058T>CTTTGT	c.(1057-1059)gttfs	p.V353fs	CERK_uc010hae.3_Frame_Shift_Ins_p.V155fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	353					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.F352V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGCCTGCAAACAAAGCATCTG	0.436