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
EPHA8	2046	broad.mit.edu	37	1	22924249	22924249	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:22924249G>T	uc001bfx.1	+	11	2136	c.2011G>T	c.(2011-2013)GCC>TCC	p.A671S		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	671	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCTCAAAGCCGGCTACAC	0.662000												
HNRNPR	10236	broad.mit.edu	37	1	23637402	23637402	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:23637402G>A	uc001bgr.3	-	11	1606	c.1447C>T	c.(1447-1449)CGT>TGT	p.R483C	HNRNPR_uc001bgo.2_Missense_Mutation_p.R93C|HNRNPR_uc001bgp.3_Missense_Mutation_p.R486C|HNRNPR_uc009vqk.2_Missense_Mutation_p.R385C|HNRNPR_uc001bgs.3_Missense_Mutation_p.R382C|HNRNPR_uc010odw.1_Missense_Mutation_p.R445C|HNRNPR_uc010odx.1_Missense_Mutation_p.R323C|HNRNPR_uc009vql.2_Missense_Mutation_p.R344C	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	483	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAGCCTCCACGATAGTCGTGA	0.398000												
RPS6KA1	6195	broad.mit.edu	37	1	26898396	26898396	+	Silent	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:26898396G>T	uc001bmr.1	+	19	1972	c.1809G>T	c.(1807-1809)CTG>CTT	p.L603L	RPS6KA1_uc010ofe.1_Silent_p.L511L|RPS6KA1_uc010off.1_Silent_p.L587L|RPS6KA1_uc001bms.1_Silent_p.L612L|RPS6KA1_uc009vsl.1_Silent_p.L446L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	603	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGGGCATTCTGCTGTACACCA	0.627000												
ARID1A	8289	broad.mit.edu	37	1	27107151	27107151	+	Nonsense_Mutation	SNP	C	C	A	rs139585602		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:27107151C>A	uc001bmv.1	+	20	7135	c.6762C>A	c.(6760-6762)TAC>TAA	p.Y2254*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Y2037*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Y1100*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Y582*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Y496*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2254					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTACTCTGTACGAATCACGGC	0.517000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
KIAA0754	643314	broad.mit.edu	37	1	39877622	39877622	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:39877622G>A	uc009vvt.1	+	1	2447	c.1685G>A	c.(1684-1686)AGA>AAA	p.R562K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	426											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATATCATGAGAGACACTTCC	0.423000												
UQCRH	7388	broad.mit.edu	37	1	46782256	46782256	+	Silent	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:46782256A>G	uc001cpp.2	+	4	335	c.276A>G	c.(274-276)TAA>TAG	p.*92*	UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	92					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)					ACTTGAAATAAATGTGTGGAC	0.383000												
FAM151A	338094	broad.mit.edu	37	1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:55089019G>A	uc001cxn.2	-	1	182	c.50C>T	c.(49-51)GCC>GTC	p.A17V	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	17	Helical; (Potential).					integral to membrane					0						GGTAATGCCGGCAAACACCCA	0.602000												
NEGR1	257194	broad.mit.edu	37	1	72058615	72058615	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:72058615A>C	uc001dfw.2	-	6	925	c.825T>G	c.(823-825)AAT>AAG	p.N275K	NEGR1_uc001dfv.2_Missense_Mutation_p.N147K|NEGR1_uc010oqs.1_Missense_Mutation_p.N231K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	275	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TTGTGCTAAAATTTTGAATAA	0.383000												
TNNI3K	51086	broad.mit.edu	37	1	74836071	74836071	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:74836071G>T	uc001dgf.1	+	17	1818	c.1767G>T	c.(1765-1767)TTG>TTT	p.L589F	TNNI3K_uc001dgc.1_Missense_Mutation_p.L690F|TNNI3K_uc001dgd.2_Missense_Mutation_p.L690F|TNNI3K_uc001dge.1_Missense_Mutation_p.L690F	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	589	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCGTGACTTGAACAGGTATT	0.358000												
C1orf173	127254	broad.mit.edu	37	1	75037596	75037596	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:75037596G>A	uc001dgg.2	-	14	4017	c.3798C>T	c.(3796-3798)GTC>GTT	p.V1266V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1266	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCTTAGCACGACATCCACTC	0.577000												
PKN2	5586	broad.mit.edu	37	1	89236101	89236101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:89236101C>T	uc001dmn.2	+	4	913	c.571C>T	c.(571-573)CGA>TGA	p.R191*	PKN2_uc001dmm.1_Nonsense_Mutation_p.R191*|PKN2_uc010osp.1_Nonsense_Mutation_p.R191*|PKN2_uc010osq.1_Nonsense_Mutation_p.R34*|PKN2_uc009wcv.2_Nonsense_Mutation_p.R191*	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	191	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGAAGTCATACGAATGCAGAT	0.363000												
ANKRD34A	284615	broad.mit.edu	37	1	145474330	145474330	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:145474330C>T	uc001enq.1	+	4	2295	c.1002C>T	c.(1000-1002)AGC>AGT	p.S334S	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	334	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAACTGAGCCGCATGGAGC	0.652000												
SPTA1	6708	broad.mit.edu	37	1	158623143	158623143	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:158623143C>T	uc001fst.1	-	22	3308	c.3109G>A	c.(3109-3111)GAT>AAT	p.D1037N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1037					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGGAACTCATCGTGGGCCAGT	0.572000												
FAM5B	57795	broad.mit.edu	37	1	177199156	177199156	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:177199156C>T	uc001glf.2	+	2	456	c.144C>T	c.(142-144)TCC>TCT	p.S48S		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	48						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						AGCATGCCTCCGTAGCTGGCC	0.682000												
GUK1	2987	broad.mit.edu	37	1	228333243	228333243	+	Silent	SNP	C	C	T	rs140072078		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:228333243C>T	uc001hsh.2	+	3	333	c.30C>T	c.(28-30)AGC>AGT	p.S10S	GUK1_uc001hsi.2_Silent_p.S31S|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Silent_p.S10S	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	10	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				TGGTGCTGAGCGGGCCTTCGG	0.652000												
ABI1	10006	broad.mit.edu	37	10	27040626	27040626	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:27040626G>A	uc001isx.2	-	11	1419	c.1252C>T	c.(1252-1254)CCA>TCA	p.P418S	ABI1_uc001ite.2_Missense_Mutation_p.P356S|ABI1_uc010qdh.1_Missense_Mutation_p.P298S|ABI1_uc010qdi.1_Missense_Mutation_p.P239S|ABI1_uc001isy.2_Missense_Mutation_p.P391S|ABI1_uc001ita.2_Missense_Mutation_p.P362S|ABI1_uc001isz.2_Missense_Mutation_p.P386S|ABI1_uc001itb.2_Missense_Mutation_p.P406S|ABI1_uc001itc.2_Missense_Mutation_p.P390S|ABI1_uc010qdj.1_Missense_Mutation_p.P332S|ABI1_uc001itd.2_Missense_Mutation_p.P361S|ABI1_uc010qdk.1_Missense_Mutation_p.P303S|ABI1_uc010qdg.1_Missense_Mutation_p.P228S	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	418	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						TAATCCACTGGTGGTGGTGGT	0.483000												
PCDH15	65217	broad.mit.edu	37	10	55569287	55569287	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:55569287T>A	uc010qhu.1	-	36	4968	c.4573A>T	c.(4573-4575)AAA>TAA	p.K1525*	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Missense_Mutation_p.K1513I|PCDH15_uc010qht.1_Missense_Mutation_p.K1506I	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-2 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTGGTTTTTTAATTTTCTT	0.413000										HNSCC(58;0.16)		
PPP3CB	5532	broad.mit.edu	37	10	75206306	75206306	+	Silent	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:75206306G>T	uc001jue.2	-	11	1347	c.1212C>A	c.(1210-1212)ATC>ATA	p.I404I	PPP3CB_uc001juf.2_Silent_p.I405I|PPP3CB_uc001jug.2_Silent_p.I405I|PPP3CB_uc001jui.2_Silent_p.I422I|PPP3CB_uc001juh.2_Silent_p.I319I|PPP3CB_uc010qkj.1_Silent_p.I32I	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	404	Calmodulin-binding (Potential).									skin(1)	1	Prostate(51;0.0119)					TGTTTCTTATGATTTCTTTCC	0.363000												
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:104184490G>T	uc001kvn.2	-	3	285	c.134C>A	c.(133-135)TCG>TAG	p.S45*	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587000												
EIF3A	8661	broad.mit.edu	37	10	120802094	120802094	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:120802094G>A	uc001ldu.2	-	19	3084	c.2938C>T	c.(2938-2940)CGT>TGT	p.R980C	EIF3A_uc010qsu.1_Missense_Mutation_p.R946C|EIF3A_uc009xzg.1_Missense_Mutation_p.R19C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	980	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|6.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTGCCCCACGACGAGAGAAC	0.582000												
OR51Q1	390061	broad.mit.edu	37	11	5443929	5443929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:5443929C>T	uc010qzd.1	+	1	499	c.499C>T	c.(499-501)CGA>TGA	p.R167*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACTCAAGCGACTGCCTTT	0.517000												
TRIM3	10612	broad.mit.edu	37	11	6478559	6478559	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:6478559G>A	uc001mdh.2	-	6	1050	c.663C>T	c.(661-663)AGC>AGT	p.S221S	TRIM3_uc001mdi.2_Silent_p.S221S|TRIM3_uc010raj.1_Silent_p.S102S|TRIM3_uc009yfd.2_Silent_p.S221S|TRIM3_uc010rak.1_Silent_p.S221S|TRIM3_uc001mdj.2_Silent_p.S102S	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	221	Potential.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCAGGTCGCTGACCAGAG	0.572000												
OR4C13	283092	broad.mit.edu	37	11	49974543	49974543	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:49974543C>A	uc010rhz.1	+	1	569	c.569C>A	c.(568-570)ACC>AAC	p.T190N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGCACTAATACCCACACTCTA	0.438000												
MAP3K11	4296	broad.mit.edu	37	11	65374207	65374207	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:65374207C>T	uc001oew.2	-	6	2051	c.1558G>A	c.(1558-1560)GGG>AGG	p.G520R	MAP3K11_uc001oev.2_5'UTR|MAP3K11_uc010rol.1_Missense_Mutation_p.G263R|MAP3K11_uc001oex.1_Missense_Mutation_p.G27R	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	520					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						TCCCCAGGCCCGACCTCGAAG	0.612000												
CABP2	51475	broad.mit.edu	37	11	67287547	67287547	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:67287547C>T	uc001omc.1	-	5	566	c.464G>A	c.(463-465)CGG>CAG	p.R155Q	CABP2_uc001omd.1_Missense_Mutation_p.R98Q|CABP2_uc001ome.1_Missense_Mutation_p.R161Q	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	155	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CCGTAGCTCCCGGACACCGAT	0.667000												
CPT1A	1374	broad.mit.edu	37	11	68560791	68560791	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:68560791T>C	uc001oog.3	-	9	1129	c.959A>G	c.(958-960)GAG>GGG	p.E320G	CPT1A_uc001oof.3_Missense_Mutation_p.E320G|CPT1A_uc009ysj.2_Missense_Mutation_p.E320G	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	320	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCTGTCTCCTCTCCTGGGAT	0.478000												
FOLH1B	219595	broad.mit.edu	37	11	89424640	89424640	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:89424640T>A	uc001pda.2	+	12	1516	c.990T>A	c.(988-990)AAT>AAA	p.N330K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	330					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						CAGTAAAAAATTTTACAGAAA	0.269000												
HEPHL1	341208	broad.mit.edu	37	11	93796676	93796676	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:93796676G>T	uc001pep.2	+	3	575	c.418G>T	c.(418-420)GCC>TCC	p.A140S		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	140	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				tttGGAAGGAGCCCTATACCC	0.279000												
PDGFD	80310	broad.mit.edu	37	11	103797732	103797732	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:103797732C>A	uc001phq.2	-	6	1267	c.895G>T	c.(895-897)GTG>TTG	p.V299L	PDGFD_uc001php.2_Missense_Mutation_p.V293L	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	299					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGCGCTGCACGAGGAGGCAA	0.483000												
TECTA	7007	broad.mit.edu	37	11	121028582	121028582	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:121028582G>A	uc010rzo.1	+	13	4338	c.4338G>A	c.(4336-4338)ACG>ACA	p.T1446T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1446					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGACTGCACGCGGCGCTGCC	0.617000												
NCAPD3	23310	broad.mit.edu	37	11	134062600	134062600	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:134062600C>T	uc001qhd.1	-	16	2635	c.2029G>A	c.(2029-2031)GAA>AAA	p.E677K	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	677					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCTGGCTTTCGGTGGTGAGG	0.507000												
FAM90A1	55138	broad.mit.edu	37	12	8376676	8376676	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:8376676G>A	uc001qui.2	-	5	818	c.259C>T	c.(259-261)CCC>TCC	p.P87S	FAM90A1_uc001quh.2_Missense_Mutation_p.P87S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	87							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TCAACCTGGGGCTTCCATGGT	0.547000												
ADAMTS20	80070	broad.mit.edu	37	12	43750286	43750286	+	Splice_Site	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:43750286C>T	uc010skx.1	-	38	5643	c.5643_splice	c.e38+1	p.E1881_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with							proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGGACTTACCTCTGATCTT	0.403000												
MBD6	114785	broad.mit.edu	37	12	57920417	57920417	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:57920417G>A	uc001soj.1	+	7	1713	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	MBD6_uc001sok.1_Missense_Mutation_p.E364K|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	497	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						AAGCCCATCCGAAGGACTGGG	0.647000												
POLR3B	55703	broad.mit.edu	37	12	106897897	106897897	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:106897897G>A	uc001tlp.2	+	27	3359	c.3137G>A	c.(3136-3138)CGT>CAT	p.R1046H	POLR3B_uc001tlq.2_Missense_Mutation_p.R988H	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1046					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GGTGGCTTGCGTCTCGGGGAA	0.388000												
FOXN4	121643	broad.mit.edu	37	12	109723285	109723285	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:109723285C>T	uc001toe.3	-	8	830	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	FOXN4_uc009zvg.2_Missense_Mutation_p.R39Q|FOXN4_uc001tof.3_Missense_Mutation_p.R62Q	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	242	Fork-head.				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			ovary(1)|lung(1)	2						CAGGTTGTGCCGCACCGAGTT	0.612000												
MYO1H	283446	broad.mit.edu	37	12	109872885	109872885	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:109872885G>A	uc010sxn.1	+	20	2059	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						GTTTGCTACCGAAGATGCCTT	0.333000												
GOLGA3	2802	broad.mit.edu	37	12	133358998	133358998	+	Missense_Mutation	SNP	C	C	T	rs151069773		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:133358998C>T	uc001ukz.1	-	17	3908	c.3349G>A	c.(3349-3351)GAG>AAG	p.E1117K	GOLGA3_uc001ula.1_Missense_Mutation_p.E1117K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1117	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTCCCTTTCTCGTGCTCTAAT	0.488000												
TRPC4	7223	broad.mit.edu	37	13	38266344	38266344	+	Silent	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:38266344G>T	uc001uws.2	-	4	1261	c.1026C>A	c.(1024-1026)GTC>GTA	p.V342V	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.V342V|TRPC4_uc010tey.1_Silent_p.V342V|TRPC4_uc010abw.2_Silent_p.V169V|TRPC4_uc010abx.2_Silent_p.V342V|TRPC4_uc010aby.2_Silent_p.V342V	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	342	Helical; (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACACAGAGAAGACAGGAAAAA	0.468000												
SUGT1	10910	broad.mit.edu	37	13	53254280	53254280	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:53254280A>G	uc001vhc.2	+	13	1211	c.986A>G	c.(985-987)AAC>AGC	p.N329S	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.N297S|SUGT1_uc010thb.1_Missense_Mutation_p.N241S|SUGT1_uc001vhd.2_Missense_Mutation_p.N186S	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	329	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGTGCCATGAACAAATCCTTT	0.323000												
SLITRK1	114798	broad.mit.edu	37	13	84454165	84454165	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:84454165C>G	uc001vlk.2	-	1	2364	c.1478G>C	c.(1477-1479)GGG>GCG	p.G493A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	493	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCGAGACCCCAGCGAACAC	0.547000												
SLITRK6	84189	broad.mit.edu	37	13	86370028	86370028	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:86370028G>A	uc001vll.1	-	2	1075	c.616C>T	c.(616-618)CAC>TAC	p.H206Y	SLITRK6_uc010afe.1_5'UTR	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	206	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGGCCAATGTGTTCGAGAAAA	0.408000												
ZIC5	85416	broad.mit.edu	37	13	100622658	100622658	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:100622658C>T	uc001vom.1	-	1	1521	c.1272G>A	c.(1270-1272)CCG>CCA	p.P424P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	424	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCCGCCGGCcgggggcggtg	0.493000												
NIN	51199	broad.mit.edu	37	14	51226755	51226755	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:51226755C>T	uc001wym.2	-	17	2410	c.2219G>A	c.(2218-2220)CGG>CAG	p.R740Q	NIN_uc001wyi.2_Missense_Mutation_p.R740Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R740Q|NIN_uc010tqp.1_Missense_Mutation_p.R746Q|NIN_uc001wyo.2_Missense_Mutation_p.R740Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	740	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCCCTCTCCCGCTCAAAGCT	0.542000			T	PDGFRB	MPD							
NID2	22795	broad.mit.edu	37	14	52478332	52478332	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:52478332G>A	uc001wzo.2	-	17	3724	c.3490C>T	c.(3490-3492)CGG>TGG	p.R1164W	NID2_uc010tqs.1_Missense_Mutation_p.R1116W|NID2_uc010tqt.1_Missense_Mutation_p.R1164W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1164	LDL-receptor class B 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGATTGTCCGTCCAGCAACA	0.488000												
SYT16	83851	broad.mit.edu	37	14	62567184	62567184	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:62567184G>A	uc001xfu.1	+	6	1894	c.1697G>A	c.(1696-1698)CGT>CAT	p.R566H	SYT16_uc010tse.1_Missense_Mutation_p.R124H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	566	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCATTCGGCGTGGTCAGCCC	0.463000												
ESR2	2100	broad.mit.edu	37	14	64723960	64723960	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:64723960C>A	uc001xha.1	-	6	1543	c.1075G>T	c.(1075-1077)GAT>TAT	p.D359Y	ESR2_uc001xgu.2_Missense_Mutation_p.D359Y|ESR2_uc001xgv.2_Missense_Mutation_p.D359Y|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D359Y|ESR2_uc001xgy.1_Missense_Mutation_p.D359Y|ESR2_uc001xgz.1_Missense_Mutation_p.D359Y|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	359	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGAACAAGATCTGGAGCAAAG	0.493000												
LTBP2	4053	broad.mit.edu	37	14	74976494	74976494	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:74976494C>T	uc001xqa.2	-	21	3607	c.3220G>A	c.(3220-3222)GCC>ACC	p.A1074T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1074	EGF-like 9; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGAGCAGGCGAAGGAGCCC	0.587000												
SPTBN5	51332	broad.mit.edu	37	15	42164501	42164501	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr15:42164501G>A	uc001zos.2	-	27	5392	c.5059C>T	c.(5059-5061)CGG>TGG	p.R1687W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1722	Spectrin 13.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGTCCTCACCGTGTGGCCGCC	0.627000												
NARFL	64428	broad.mit.edu	37	16	780495	780495	+	Silent	SNP	C	C	T	rs142623781		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:780495C>T	uc002cjr.2	-	11	1365	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S	NARFL_uc002cjp.2_Silent_p.S349S|NARFL_uc002cjq.2_Silent_p.S349S|NARFL_uc002cjs.2_Silent_p.S233S	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	451					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				CTGCACACTCCGAGTCCGTGC	0.667000												
NTHL1	4913	broad.mit.edu	37	16	2096147	2096147	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:2096147G>C	uc002col.1	-	2	379	c.360C>G	c.(358-360)GAC>GAG	p.D120E	NTHL1_uc002com.1_Missense_Mutation_p.D120E	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	120					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						GGGCACTGGAGTCATAGCAGT	0.582000								BER_DNA_glycosylases				
ORAI3	93129	broad.mit.edu	37	16	30964856	30964856	+	Silent	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:30964856G>T	uc002eac.2	+	2	785	c.579G>T	c.(577-579)GTG>GTT	p.V193V		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	193						integral to membrane	protein binding				0						CATCCCGGGTGCCCGGGACTC	0.617000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPT2	84706	broad.mit.edu	37	16	46943744	46943744	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:46943744C>T	uc002eel.2	+	6	819	c.725C>T	c.(724-726)GCG>GTG	p.A242V	GPT2_uc002eem.2_Missense_Mutation_p.A142V	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	242					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACTGCTGGGCGCTGAATGTG	0.557000												
CYLD	1540	broad.mit.edu	37	16	50830292	50830292	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:50830292A>G	uc002egp.1	+	19	3159	c.2744A>G	c.(2743-2745)TAC>TGC	p.Y915C	CYLD_uc002egq.1_Missense_Mutation_p.Y912C|CYLD_uc002egr.1_Missense_Mutation_p.Y912C	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	915					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GTAGGAGAGTACTTGAAGATG	0.478000			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
PLA2G15	23659	broad.mit.edu	37	16	68293500	68293500	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:68293500C>T	uc002evr.2	+	6	1262	c.1179C>T	c.(1177-1179)ATC>ATT	p.I393I	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.I299I|PLA2G15_uc010vlf.1_Silent_p.I193I|PLA2G15_uc002evs.2_Silent_p.I214I	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	393					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GCGAGCACATCGAGATGCTGG	0.627000												
TERF2	7014	broad.mit.edu	37	16	69418513	69418514	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:69418513_69418514GA>AT	uc002exd.2	-	3	574_575	c.449_450TC>AT	c.(448-450)GTC>GAT	p.V150D	TERF2_uc002exe.2_Missense_Mutation_p.V150D	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	150	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TACTGGATTCGACCACTGCTTC	0.406000												
KCNG4	93107	broad.mit.edu	37	16	84270705	84270705	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:84270705G>A	uc010voc.1	-	2	508	c.387C>T	c.(385-387)GCC>GCT	p.A129A	KCNG4_uc002fhu.1_Silent_p.A129A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	129	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CCAGCTTCCCGGCCGCCAGGA	0.637000												
ASGR1	432	broad.mit.edu	37	17	7077074	7077074	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:7077074G>A	uc002ges.3	-	9	1190	c.780C>T	c.(778-780)GAC>GAT	p.D260D	ASGR1_uc010clx.1_3'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	260	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						AGCGGCCGTCGTCGGTGAAGT	0.657000												
POLR2A	5430	broad.mit.edu	37	17	7404941	7404941	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:7404941G>A	uc002ghf.3	+	14	2476	c.2242G>A	c.(2242-2244)GCC>ACC	p.A748T		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	748					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TCTTAACGATGCCCGAGACAA	0.502000												
CCDC42	146849	broad.mit.edu	37	17	8647479	8647479	+	Missense_Mutation	SNP	G	G	A	rs143164438		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:8647479G>A	uc002gln.2	-	2	334	c.107C>T	c.(106-108)GCG>GTG	p.A36V	CCDC42_uc002glo.2_Missense_Mutation_p.A36V	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	36										ovary(1)	1						GGACTCCGACGCCCCCTCAAC	0.547000												
PIPOX	51268	broad.mit.edu	37	17	27380077	27380077	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:27380077C>T	uc002hdr.1	+	3	729	c.403C>T	c.(403-405)CCC>TCC	p.P135S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	135					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TATTCGGTTGCCCAGGGGAGA	0.498000												
CDH2	1000	broad.mit.edu	37	18	25572744	25572744	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr18:25572744C>T	uc002kwg.2	-	9	1678	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	CDH2_uc010xbn.1_Missense_Mutation_p.D376N	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	407	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TGATCCTTATCGGTCACAGTT	0.502000												
ZNF700	90592	broad.mit.edu	37	19	12059220	12059220	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:12059220C>T	uc002msu.2	+	4	507	c.381C>T	c.(379-381)GAC>GAT	p.D127D	ZNF700_uc010xme.1_Silent_p.D145D|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATCATGTGACAGCTTTGTGT	0.413000												
CILP2	148113	broad.mit.edu	37	19	19655192	19655192	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:19655192G>A	uc002nmv.3	+	8	1923	c.1838G>A	c.(1837-1839)CGA>CAA	p.R613Q	CILP2_uc002nmw.3_Missense_Mutation_p.R619Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	613						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTGGACCCCCGAGACCTCACC	0.697000												
FCGBP	8857	broad.mit.edu	37	19	40368334	40368334	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:40368334G>A	uc002omp.3	-	28	13022	c.13014C>T	c.(13012-13014)GTC>GTT	p.V4338V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4338						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCTTCGATGACAACCCCAG	0.647000												
ZNF581	51545	broad.mit.edu	37	19	56156207	56156207	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:56156207C>T	uc002qln.2	+	2	986	c.270C>T	c.(268-270)CCC>CCT	p.P90P	ZNF581_uc002qlq.2_Silent_p.P90P|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	90	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACAGCTGCCCCGTGTGCTCAA	0.587000												
PXDN	7837	broad.mit.edu	37	2	1643087	1643087	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:1643087G>A	uc002qxa.2	-	20	4124	c.4060C>T	c.(4060-4062)CGG>TGG	p.R1354W		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1354					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTATTTTCCGTGGTCTTGTT	0.577000												
GALNT14	79623	broad.mit.edu	37	2	31165143	31165143	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:31165143G>A	uc002rnr.2	-	9	1474	c.855C>T	c.(853-855)TTC>TTT	p.F285F	GALNT14_uc002rnq.2_Silent_p.F265F|GALNT14_uc002rns.2_Silent_p.F290F|GALNT14_uc010ymr.1_Silent_p.F250F|GALNT14_uc010ezo.1_Silent_p.F252F|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	285	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGTCGATCACGAAGAGCCCTC	0.498000												
FAM136A	84908	broad.mit.edu	37	2	70527986	70527986	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:70527986G>C	uc002sgq.3	-	2	291	c.214C>G	c.(214-216)CTG>GTG	p.L72V	FAM136A_uc010fdp.2_RNA	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	72						mitochondrion	protein binding				0						AACTTCTCCAGCTCACTGGTG	0.517000												
CCDC148	130940	broad.mit.edu	37	2	159028732	159028732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:159028732G>A	uc002tzq.2	-	14	1932	c.1669C>T	c.(1669-1671)CGA>TGA	p.R557*	CCDC148_uc002tzr.2_Nonsense_Mutation_p.R405*|CCDC148_uc010foh.2_Nonsense_Mutation_p.R270*	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	557										ovary(2)	2						CCAGCTTCTCGAAGTGCTAAC	0.308000												
LRP2	4036	broad.mit.edu	37	2	170063685	170063685	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:170063685C>T	uc002ues.2	-	39	6758	c.6545G>A	c.(6544-6546)CGT>CAT	p.R2182H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2182	LDL-receptor class B 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAAGAACACGGCGGTAAGT	0.418000												
TTN	7273	broad.mit.edu	37	2	179613044	179613044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:179613044C>A	uc002unb.2	-	46	14307	c.14083G>T	c.(14083-14085)GAA>TAA	p.E4695*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAATTTTCATCAATACTA	0.303000												
BMPR2	659	broad.mit.edu	37	2	203420137	203420137	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:203420137C>A	uc002uzf.3	+	12	2897	c.1749C>A	c.(1747-1749)AAC>AAA	p.N583K	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	583	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.N583fs*44(1)		ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GGGAAAAAAACCGAAATTCAA	0.433000												
FEV	54738	broad.mit.edu	37	2	219846752	219846752	+	Silent	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:219846752A>G	uc002vji.1	-	3	936	c.354T>C	c.(352-354)CAT>CAC	p.H118H		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	118	ETS.				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGCTTGCCATGCACCTTGC	0.567000			T	EWSR1| FUS	Ewing sarcoma							
USP40	55230	broad.mit.edu	37	2	234431906	234431906	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:234431906A>T	uc010zmr.1	-	15	2144	c.2144T>A	c.(2143-2145)ATC>AAC	p.I715N	USP40_uc010zmt.1_Missense_Mutation_p.I359N	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	703					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCTTGGGGATGGCCGTCCA	0.502000												
PTPRA	5786	broad.mit.edu	37	20	2945695	2945695	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr20:2945695A>G	uc010zqb.1	+	5	655	c.262A>G	c.(262-264)ACC>GCC	p.T88A	PTPRA_uc002whj.2_Missense_Mutation_p.T88A|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Missense_Mutation_p.T88A|PTPRA_uc010zqd.1_Missense_Mutation_p.T99A|PTPRA_uc002whl.2_Missense_Mutation_p.T88A|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.T88A			P18433	PTPRA_HUMAN	SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);	88	Extracellular (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TGACAATGGGACCACAAGAAC	0.443000												
BCAS1	8537	broad.mit.edu	37	20	52583468	52583468	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr20:52583468G>T	uc002xws.2	-	9	1665	c.1327C>A	c.(1327-1329)CTG>ATG	p.L443M	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.L391M|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.L429M|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	443						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACGCCATCAGAGAGGTTCTT	0.423000												
BRWD1	54014	broad.mit.edu	37	21	40608631	40608631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr21:40608631G>A	uc002yxk.1	-	23	2795	c.2656C>T	c.(2656-2658)CGA>TGA	p.R886*	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R886*|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Nonsense_Mutation_p.R339*|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Nonsense_Mutation_p.R562*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTAATTCGTCGACGACATGAT	0.393000												
SGSM3	27352	broad.mit.edu	37	22	40803534	40803534	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr22:40803534G>C	uc003ayu.1	+	13	1695	c.1486G>C	c.(1486-1488)GAC>CAC	p.D496H	SGSM3_uc011aos.1_Missense_Mutation_p.D429H|SGSM3_uc011aot.1_Missense_Mutation_p.D433H|SGSM3_uc010gyd.1_Missense_Mutation_p.D567H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	496	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						GCGGCACGACGACGACGAGCT	0.657000												
STAC	6769	broad.mit.edu	37	3	36534690	36534690	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:36534690C>T	uc003cgh.1	+	6	774	c.735C>T	c.(733-735)GGC>GGT	p.G245G	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.G184G	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	245					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						GGCCAGGAGGCGGGTATGACC	0.507000												
CTNNB1	1499	broad.mit.edu	37	3	41266453	41266453	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:41266453G>A	uc010hia.1	+	5	406	c.250G>A	c.(250-252)GGA>AGA	p.G84R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G84R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G84R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G84R|CTNNB1_uc011azf.1_Missense_Mutation_p.G77R|CTNNB1_uc011azg.1_Missense_Mutation_p.G12R|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	84					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_R90del(1)|p.?(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.A20_S111del(1)|p.A20_R151del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGATATTGATGGACAGTATGC	0.418000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
CTNNB1	1499	broad.mit.edu	37	3	41266572	41266572	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:41266572G>T	uc010hia.1	+	5	525	c.369G>T	c.(367-369)CAG>CAT	p.Q123H	CTNNB1_uc003ckp.2_Missense_Mutation_p.Q123H|CTNNB1_uc003ckq.2_Missense_Mutation_p.Q123H|CTNNB1_uc003ckr.2_Missense_Mutation_p.Q123H|CTNNB1_uc011azf.1_Missense_Mutation_p.Q116H|CTNNB1_uc011azg.1_Missense_Mutation_p.Q51H|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	123					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTAATGTCCAGCGTTTGGCTG	0.468000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
ADAMTS9	56999	broad.mit.edu	37	3	64633635	64633635	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:64633635G>A	uc003dmg.2	-	11	1723	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	ADAMTS9_uc011bfo.1_Missense_Mutation_p.T536M|ADAMTS9_uc003dmh.1_Missense_Mutation_p.T393M|ADAMTS9_uc003dmk.1_Missense_Mutation_p.T564M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	564	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCGCACTCCGTCCCATCGGC	0.517000												
ROBO2	6092	broad.mit.edu	37	3	77526667	77526667	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:77526667C>G	uc003dpy.3	+	3	1134	c.491C>G	c.(490-492)ACC>AGC	p.T164S	ROBO2_uc003dpz.2_Missense_Mutation_p.T164S|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T164S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	164	Ig-like C2-type 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGAACCCACCATCTACTGG	0.458000												
ATP13A3	79572	broad.mit.edu	37	3	194158159	194158159	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:194158159G>T	uc003fty.3	-	18	2282	c.1880C>A	c.(1879-1881)CCA>CAA	p.P627Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.P333Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	627					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGAAGAAAATGGGAACTGGCG	0.433000												
ANK2	287	broad.mit.edu	37	4	114254248	114254248	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:114254248G>A	uc003ibe.3	+	29	3363	c.3263G>A	c.(3262-3264)CGA>CAA	p.R1088Q	ANK2_uc003ibd.3_Missense_Mutation_p.R1079Q|ANK2_uc003ibf.3_Missense_Mutation_p.R1088Q|ANK2_uc011cgc.1_Missense_Mutation_p.R264Q|ANK2_uc003ibg.3_Missense_Mutation_p.R83Q|ANK2_uc003ibc.2_Missense_Mutation_p.R1064Q|ANK2_uc011cgb.1_Missense_Mutation_p.R1103Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1055	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGGCCCTTCGAGGAAAGGAA	0.488000												
IRF2	3660	broad.mit.edu	37	4	185310094	185310094	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:185310094C>T	uc003iwf.3	-	9	1068	c.868G>A	c.(868-870)GTC>ATC	p.V290I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	290					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTGATGGTGACCTGGAGGTCC	0.567000												
FAT1	2195	broad.mit.edu	37	4	187516845	187516845	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:187516845T>C	uc003izf.2	-	26	13324	c.13136A>G	c.(13135-13137)AAT>AGT	p.N4379S	FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.N270S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4379	PTB-like motif (By similarity).|Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGCCTCACCATTGTCATCGCA	0.512000										HNSCC(5;0.00058)		
KIAA0947	23379	broad.mit.edu	37	5	5463370	5463370	+	Missense_Mutation	SNP	C	C	T	rs148095940	by1000genomes	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:5463370C>T	uc003jdm.3	+	13	4145	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1308										ovary(1)|central_nervous_system(1)	2						TTTCGGGAAACGACTGGCTCC	0.443000												
GZMA	3001	broad.mit.edu	37	5	54405923	54405923	+	Silent	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:54405923C>T	uc003jpm.2	+	5	739	c.702C>T	c.(700-702)TGC>TGT	p.C234C		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	234	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAAATAAATGCGGAGACCCTC	0.468000												
DMGDH	29958	broad.mit.edu	37	5	78347179	78347179	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:78347179A>G	uc003kfs.2	-	5	682	c.676T>C	c.(676-678)TCA>CCA	p.S226P	DMGDH_uc011cte.1_Missense_Mutation_p.S76P|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	226					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTTCCATCTGACCTGGCTTTC	0.423000												
HARS	3035	broad.mit.edu	37	5	140054699	140054699	+	Missense_Mutation	SNP	C	C	T	rs147185134		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:140054699C>T	uc003lgv.2	-	11	1296	c.1214G>A	c.(1213-1215)CGG>CAG	p.R405Q	DND1_uc003lgt.2_5'Flank|HARS_uc003lgu.2_Missense_Mutation_p.R336Q|HARS_uc011czm.1_Missense_Mutation_p.R365Q|HARS_uc003lgw.2_Missense_Mutation_p.R385Q|HARS_uc011czn.1_Missense_Mutation_p.R345Q|HARS_uc010jfu.2_Intron|HARS_uc011czo.1_Missense_Mutation_p.R331Q|HARS_uc011czp.1_Missense_Mutation_p.R291Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	405					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTCCGTGGTCCGTATCTTCTC	0.507000												
PCDHB7	56129	broad.mit.edu	37	5	140554375	140554375	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:140554375G>A	uc003lit.2	+	1	2133	c.1959G>A	c.(1957-1959)TCG>TCA	p.S653S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	653	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)			CTCCGCGCTCGGCCACCGCCA	0.701000												
PDGFRB	5159	broad.mit.edu	37	5	149499084	149499084	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:149499084T>C	uc003lro.2	-	20	3213	c.2744A>G	c.(2743-2745)AAT>AGT	p.N915S	PDGFRB_uc010jhd.2_Missense_Mutation_p.N754S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	915	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGATGGCATTGTAGAACTG	0.493000			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
SOX30	11063	broad.mit.edu	37	5	157078284	157078284	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:157078284G>A	uc003lxb.1	-	1	1145	c.803C>T	c.(802-804)CCC>CTC	p.P268L	SOX30_uc003lxc.1_Missense_Mutation_p.P268L|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	268					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCCCAGGGGGGACCGTGTG	0.602000												
RNF130	55819	broad.mit.edu	37	5	179393912	179393912	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:179393912G>A	uc003mll.1	-	7	1451	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G	RNF130_uc003mlm.1_Silent_p.G348G	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	348	Cytoplasmic (Potential).				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGTTGTCGCCGGCGAGGT	0.537000												
FTSJD2	23070	broad.mit.edu	37	6	37414202	37414202	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:37414202G>A	uc003ons.2	+	4	674	c.421G>A	c.(421-423)GTG>ATG	p.V141M	FTSJD2_uc010jwu.2_Missense_Mutation_p.V141M	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	141					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGCTGAACGTGGACTGGCG	0.502000												
C6orf153	88745	broad.mit.edu	37	6	42992783	42992783	+	Missense_Mutation	SNP	C	C	T	rs140642066	byFrequency	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:42992783C>T	uc003otp.1	+	2	199	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	64					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGACTAAGACGTACAAACAA	0.458000												
GPR6	2830	broad.mit.edu	37	6	110300361	110300361	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:110300361G>T	uc011eaw.1	+	2	226	c.46G>T	c.(46-48)GTG>TTG	p.V16L	GPR6_uc011eav.1_Missense_Mutation_p.V31L|GPR6_uc003ptu.2_Missense_Mutation_p.V16L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	16	Poly-Val.|Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggtggtggtagtggcggccga	0.488000												
REV3L	5980	broad.mit.edu	37	6	111654434	111654434	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:111654434T>C	uc003puy.3	-	23	8140	c.7817A>G	c.(7816-7818)TAT>TGT	p.Y2606C	REV3L_uc003pux.3_Missense_Mutation_p.Y2528C|REV3L_uc003puz.3_Missense_Mutation_p.Y2528C|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2606					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGAGTTGCTATAGAAGCGGGA	0.438000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SYNE1	23345	broad.mit.edu	37	6	152671459	152671459	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:152671459G>T	uc010kiw.2	-	72	12347	c.11745C>A	c.(11743-11745)TTC>TTA	p.F3915L	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.F3915L|SYNE1_uc010kja.1_Missense_Mutation_p.F620L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3915	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCAGACTGAAGACATGCT	0.468000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152708291	152708291	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:152708291G>A	uc010kiw.2	-	54	9005	c.8403C>T	c.(8401-8403)TAC>TAT	p.Y2801Y	SYNE1_uc003qot.3_Silent_p.Y2808Y|SYNE1_uc003qou.3_Silent_p.Y2801Y|SYNE1_uc010kjb.1_Silent_p.Y2784Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2801	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTCTTTTCGTAGAGCTCCC	0.463000										HNSCC(10;0.0054)		
RPS6KA2	6196	broad.mit.edu	37	6	166844054	166844054	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:166844054G>A	uc003qvb.1	-	16	1687	c.1468C>T	c.(1468-1470)CGT>TGT	p.R490C	RPS6KA2_uc011ego.1_Missense_Mutation_p.R401C|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R401C|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R498C|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R515C	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	490	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCCCCACCACGCATCAGCTCC	0.582000												
FBXL13	222235	broad.mit.edu	37	7	102453857	102453857	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:102453857A>T	uc003vaq.2	-	20	2567	c.2140T>A	c.(2140-2142)TCA>ACA	p.S714T	FBXL13_uc010liq.1_Missense_Mutation_p.S247T|FBXL13_uc010lir.1_Missense_Mutation_p.S669T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S686T|FAM185A_uc011klh.1_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	714											0						CCTTTAGATGATGTTATGTTG	0.423000												
SLC37A3	84255	broad.mit.edu	37	7	140037083	140037083	+	Splice_Site	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:140037083C>T	uc003vvo.2	-	14	1558	c.1392_splice	c.e14+1	p.M464_splice	SLC37A3_uc003vvn.2_Intron|SLC37A3_uc003vvp.2_Splice_Site_p.D364_splice|SLC37A3_uc010lnh.2_Splice_Site_p.M448_splice	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate						carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					CACACACTTACCATGAGAATG	0.323000												
MGAM	8972	broad.mit.edu	37	7	141727496	141727496	+	Silent	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:141727496G>A	uc003vwy.2	+	10	1236	c.1182G>A	c.(1180-1182)AGG>AGA	p.R394R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	394	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAACATGAGGGAAGTCGTGG	0.453000												
DLGAP2	9228	broad.mit.edu	37	8	1626397	1626397	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:1626397G>A	uc003wpl.2	+	9	2163	c.2066G>A	c.(2065-2067)CGT>CAT	p.R689H	DLGAP2_uc003wpm.2_Missense_Mutation_p.R675H	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGTTTTAAACGTTCTAACAGC	0.557000												
NKX3-1	4824	broad.mit.edu	37	8	23538802	23538802	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:23538802C>T	uc011kzx.1	-	2	685	c.637G>A	c.(637-639)GTG>ATG	p.V213M	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	213					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTGTTATACACGGAGACCAGG	0.547000												
MYST3	7994	broad.mit.edu	37	8	41906091	41906091	+	Missense_Mutation	SNP	G	G	T	rs141667008		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:41906091G>T	uc010lxb.2	-	3	949	c.405C>A	c.(403-405)TTC>TTA	p.F135L	MYST3_uc010lxc.2_Missense_Mutation_p.F135L|MYST3_uc003xon.3_Missense_Mutation_p.F135L|MYST3_uc010lxd.2_Missense_Mutation_p.F135L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	135	H15.|Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACTGCCTCCGAATAATGCAG	0.493000												
TRPS1	7227	broad.mit.edu	37	8	116599450	116599450	+	Silent	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:116599450C>A	uc003ynz.2	-	4	2898	c.2439G>T	c.(2437-2439)CTG>CTT	p.L813L	TRPS1_uc011lhy.1_Silent_p.L817L|TRPS1_uc003yny.2_Silent_p.L826L|TRPS1_uc010mcy.2_Silent_p.L813L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	813	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGGCGTCAGCAGCCCCAGGC	0.577000									Langer-Giedion_syndrome			
GLIPR2	152007	broad.mit.edu	37	9	36162426	36162426	+	Silent	SNP	C	C	T	rs73648727	byFrequency	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:36162426C>T	uc003zyz.2	+	5	406	c.372C>T	c.(370-372)GAC>GAT	p.D124D	GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	124				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						CCGCAAGTGACGGGTCCTCCT	0.562000												
ZNF510	22869	broad.mit.edu	37	9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:99521449G>A	uc004awn.1	-	6	1852	c.1663C>T	c.(1663-1665)CGA>TGA	p.R555*	ZNF510_uc004awo.1_Nonsense_Mutation_p.R555*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413000												
TGFBR1	7046	broad.mit.edu	37	9	101891357	101891357	+	Nonsense_Mutation	SNP	C	C	A	rs149417020		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:101891357C>A	uc004azc.2	+	2	394	c.318C>A	c.(316-318)TGC>TGA	p.C106*	TGFBR1_uc004azd.2_Nonsense_Mutation_p.C106*|TGFBR1_uc011lvc.1_Nonsense_Mutation_p.C37*|TGFBR1_uc004aze.2_Nonsense_Mutation_p.C37*	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	106	Extracellular (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				AGGACCATTGCAATAAAATAG	0.333000												
OR13F1	138805	broad.mit.edu	37	9	107266848	107266848	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:107266848A>G	uc011lvm.1	+	1	305	c.305A>G	c.(304-306)TAC>TGC	p.Y102C		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						ACTCAGATGTACCTCTCCCTT	0.532000												
PPAPDC3	84814	broad.mit.edu	37	9	134165439	134165439	+	Silent	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:134165439C>A	uc004cal.2	+	1	359	c.55C>A	c.(55-57)CGG>AGG	p.R19R		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	19	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTCCTCAACCGGGCTGAGTT	0.711000												
ARSE	415	broad.mit.edu	37	X	2867487	2867487	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:2867487G>A	uc004crc.3	-	6	962	c.712C>T	c.(712-714)CTC>TTC	p.L238F	ARSE_uc011mhi.1_Missense_Mutation_p.L184F|ARSE_uc011mhh.1_Missense_Mutation_p.L263F	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	238					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGCTTGCGAGGAGGAGGACG	0.562000												
TAF7L	54457	broad.mit.edu	37	X	100533036	100533036	+	Splice_Site	SNP	C	C	T			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:100533036C>T	uc004ehb.2	-	8	847	c.835_splice	c.e8+1	p.R279_splice	TAF7L_uc004eha.2_Splice_Site_p.R193_splice|TAF7L_uc004ehc.1_Splice_Site_p.R193_splice	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						ATAAAGGATACGGGTACTTAC	0.458000												
FMR1NB	158521	broad.mit.edu	37	X	147084750	147084750	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:147084750C>A	uc004fcm.2	+	2	381	c.307C>A	c.(307-309)CAT>AAT	p.H103N		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	103	Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAATGGACATATCCTGCC	0.363000												
HSPG2	3339	broad.mit.edu	37	1	22198725	22198725	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:22198725delT	uc001bfj.2	-	33	4215	c.4175delA	c.(4174-4176)CATfs	p.H1392fs	HSPG2_uc009vqd.2_Frame_Shift_Del_p.H1393fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1392	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAAGGACTCATGGCCGAGTTG	0.597												
CDH1	999	broad.mit.edu	37	16	68863697	68863701	+	Frame_Shift_Del	DEL	TGAAG	TGAAG	-			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:68863696_68863700ATGAAG>A	uc002ewg.1	+	14	2559_2563	c.2435_2439ATGAAG>A	c.(2434-2439)gatgaafs	p.D812fs	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Frame_Shift_Del_p.D751fs	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	812	Required for binding alpha, beta and gamma catenins.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTTTATTGATGAAGTAAGTAATC	0.459			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer