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
AGRN	375790	broad.mit.edu	37	1	979719	979719	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:979719C>T	uc001ack.1	+	12	2204	c.2154C>T	c.(2152-2154)TGC>TGT	p.C718C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	718	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCCAGGTGTGCGGCTCAGATG	0.687												
CHD5	26038	broad.mit.edu	37	1	6214827	6214827	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:6214827A>G	uc001amb.1	-	5	738	c.638T>C	c.(637-639)GTG>GCG	p.V213A		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	213					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		Agccgcagccaccgccgccgc	0.532												
ZBTB48	3104	broad.mit.edu	37	1	6641353	6641353	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:6641353T>C	uc009vmc.1	+	2	807	c.684T>C	c.(682-684)AGT>AGC	p.S228S	ZBTB48_uc001anx.2_Silent_p.S228S|ZBTB48_uc009vmd.1_Silent_p.S228S	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	228						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGCGGCAGTAATGAGGTAC	0.502												
MASP2	10747	broad.mit.edu	37	1	11097870	11097870	+	Splice_Site	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:11097870T>C	uc001aru.2	-	7	911	c.890_splice	c.e7-1	p.A297_splice		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform						complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AAGGCTGCGCTGCGCAGAGGA	0.473											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MFN2	9927	broad.mit.edu	37	1	12066617	12066617	+	Missense_Mutation	SNP	C	C	T	rs150304304		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:12066617C>T	uc001atn.3	+	16	2192	c.1739C>T	c.(1738-1740)ACG>ATG	p.T580M	MFN2_uc009vni.2_Missense_Mutation_p.T580M	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	580	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATCCCTCTGACGCCAGCCAAC	0.597												
EPHA2	1969	broad.mit.edu	37	1	16464570	16464570	+	Missense_Mutation	SNP	C	C	T	rs150248625		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:16464570C>T	uc001aya.1	-	5	1227	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	EPHA2_uc010oca.1_Missense_Mutation_p.V364I	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	364	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCGCAGGTGACGCTGTAGACA	0.677												
ACTL8	81569	broad.mit.edu	37	1	18149808	18149808	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:18149808A>T	uc001bat.2	+	2	521	c.305A>T	c.(304-306)GAG>GTG	p.E102V		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	102						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ATCATCACGGAGACACCCTTG	0.612												
TAS1R2	80834	broad.mit.edu	37	1	19180859	19180859	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19180859C>T	uc001bba.1	-	3	1106	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	369	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACAAGGTGGCGTTCAGGCAG	0.622												
ALDH4A1	8659	broad.mit.edu	37	1	19209681	19209681	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19209681C>T	uc001bbb.2	-	7	891	c.615G>A	c.(613-615)GCG>GCA	p.A205A	ALDH4A1_uc010ocu.1_Silent_p.A145A|ALDH4A1_uc001bbc.2_Silent_p.A205A	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	205					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCGAGATGGCCGCCACGAAGC	0.672												
UBR4	23352	broad.mit.edu	37	1	19426949	19426949	+	Missense_Mutation	SNP	G	G	A	rs144615268		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19426949G>A	uc001bbi.2	-	89	13146	c.13142C>T	c.(13141-13143)CCG>CTG	p.P4381L	UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_Missense_Mutation_p.P15L|UBR4_uc010ocw.1_Missense_Mutation_p.P72L|UBR4_uc001bbg.2_Missense_Mutation_p.P92L|UBR4_uc001bbh.2_Missense_Mutation_p.P90L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4381					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTCATCAGCGGCCCGATGCC	0.522												
UBR4	23352	broad.mit.edu	37	1	19441953	19441953	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19441953G>A	uc001bbi.2	-	74	11006	c.11002C>T	c.(11002-11004)CCT>TCT	p.P3668S	UBR4_uc001bbj.1_Missense_Mutation_p.P83S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3668					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGTTGGCAGGGACCGAGGCA	0.537												
RHD	6007	broad.mit.edu	37	1	25633166	25633166	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:25633166A>G	uc001bjz.2	+	7	1077	c.1019A>G	c.(1018-1020)GAG>GGG	p.E340G	RHD_uc010oep.1_Missense_Mutation_p.E340G|RHD_uc001bkc.2_Intron|RHD_uc009vrm.2_Missense_Mutation_p.E172G|RHD_uc001bka.2_Missense_Mutation_p.E340G|RHD_uc001bkb.2_Missense_Mutation_p.E340G|RHD_uc009vrn.2_Intron|RHD_uc009vro.2_Missense_Mutation_p.E340G|RHD_uc009vrp.2_Missense_Mutation_p.E340G|uc001bkd.1_5'Flank	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	340	Helical; (Potential).					integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCTTGGAGAGATCATCTAC	0.542												
MACF1	23499	broad.mit.edu	37	1	39914433	39914433	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:39914433G>T	uc010oiu.1	+	49	15716	c.15585G>T	c.(15583-15585)GAG>GAT	p.E5195D	MACF1_uc010ois.1_Missense_Mutation_p.E4693D	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			AGTCTGTGGAGCGGTGAGCAT	0.433												
RIMKLA	284716	broad.mit.edu	37	1	42865221	42865221	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:42865221A>C	uc001chi.2	+	2	448	c.310A>C	c.(310-312)AGC>CGC	p.S104R		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	104					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TCGCCCACAGAGCATCTTAAA	0.537												
HYI	81888	broad.mit.edu	37	1	43917616	43917616	+	Silent	SNP	C	C	T	rs139460802	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:43917616C>T	uc001cjo.2	-	4	665	c.495G>A	c.(493-495)ACG>ACA	p.T165T	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Silent_p.T92T|HYI_uc001cjn.2_Silent_p.T165T|HYI_uc001cjp.2_Silent_p.T92T	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	165							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGCTGGGGCGTGTCCAGGA	0.602												
HECTD3	79654	broad.mit.edu	37	1	45473239	45473239	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:45473239C>T	uc009vxk.2	-	10	1447	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R60H|HECTD3_uc010olh.1_Missense_Mutation_p.R166H	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	450					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGGCCGCTGGCGGGACAGCAG	0.612												
C1orf190	541468	broad.mit.edu	37	1	46685444	46685444	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:46685444G>A	uc010oma.1	+	2	365	c.272G>A	c.(271-273)CGC>CAC	p.R91H	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	91					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					GAGGCAGTGCGCTGGCTGTTG	0.602												
ZYG11B	79699	broad.mit.edu	37	1	53250615	53250615	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:53250615G>A	uc001cuj.2	+	5	1354	c.1159G>A	c.(1159-1161)GTA>ATA	p.V387I	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.V378I	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	387							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AAGCGCCTGTGTATTTAACTT	0.463												
INSL5	10022	broad.mit.edu	37	1	67266795	67266795	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:67266795A>G	uc001dcw.2	-	1	145	c.110T>C	c.(109-111)GTC>GCC	p.V37A		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	insulin-like 5 precursor	37						extracellular region	hormone activity				0						GATATAGATGACTGTCCGTAT	0.463												
GCLM	2730	broad.mit.edu	37	1	94354581	94354581	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:94354581C>A	uc001dqg.1	-	7	1083	c.790G>T	c.(790-792)GGC>TGC	p.G264C		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	264					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAAATGTAGCCTTTTGATTTG	0.398												
CHD1L	9557	broad.mit.edu	37	1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:146756150G>A	uc001epm.3	+	16	1895	c.1832G>A	c.(1831-1833)CGA>CAA	p.R611Q	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R498Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R517Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R330Q|CHD1L_uc001epo.3_Missense_Mutation_p.R407Q|CHD1L_uc010ozq.1_Missense_Mutation_p.R184Q|CHD1L_uc009wji.2_Missense_Mutation_p.R330Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348												
OTUD7B	56957	broad.mit.edu	37	1	149931626	149931626	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:149931626A>G	uc001etn.2	-	7	1178	c.822T>C	c.(820-822)GGT>GGC	p.G274G		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	274	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTCCATTGGTACCTAGATGCA	0.512												
SPRR4	163778	broad.mit.edu	37	1	152944416	152944416	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:152944416G>A	uc001fav.1	+	2	113	c.50G>A	c.(49-51)AGG>AAG	p.R17K		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	17	Gln-rich.				keratinization|peptide cross-linking	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAGAGGGCCCAGCAG	0.488												
S100A2	6273	broad.mit.edu	37	1	153536279	153536279	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:153536279G>A	uc001fcb.2	-	2	410	c.72C>T	c.(70-72)GGC>GGT	p.G24G		NM_005978	NP_005969	P29034	S10A2_HUMAN	S100 calcium binding protein A2	25	1; low affinity (Potential).|EF-hand 1.				endothelial cell migration		calcium ion binding			ovary(1)	1	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAACTTGTCGCCCTCTTGGC	0.582												
ZBTB7B	51043	broad.mit.edu	37	1	154988858	154988858	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:154988858C>T	uc001fgk.3	+	4	1475	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	ZBTB7B_uc009wpa.2_Silent_p.F439F|ZBTB7B_uc001fgj.3_Silent_p.F473F|ZBTB7B_uc010peq.1_Silent_p.F473F|ZBTB7B_uc001fgl.3_Silent_p.F439F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	439	C2H2-type 4; atypical.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACAAGGCTTTCGCCAAGGAGG	0.647												
ASH1L	55870	broad.mit.edu	37	1	155491309	155491309	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:155491309A>G	uc009wqq.2	-	2	482	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ASH1L_uc001fkt.2_Missense_Mutation_p.M1T|ASH1L_uc009wqr.1_Missense_Mutation_p.M1T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTAGGGTCCATCACAAGCGT	0.393												
NES	10763	broad.mit.edu	37	1	156642793	156642793	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:156642793G>A	uc001fpq.2	-	4	1320	c.1187C>T	c.(1186-1188)GCA>GTA	p.A396V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	396	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGAGGGTGCCTGAGGTGT	0.607												
OR10K2	391107	broad.mit.edu	37	1	158390265	158390265	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:158390265C>T	uc010pii.1	-	1	392	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CACTGAGTAGCGCAGTGGGTT	0.502												
CADM3	57863	broad.mit.edu	37	1	159166166	159166166	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:159166166C>T	uc001ftl.2	+	6	846	c.704C>T	c.(703-705)GCG>GTG	p.A235V	CADM3_uc009wsy.1_Missense_Mutation_p.A189V|CADM3_uc001ftk.2_Missense_Mutation_p.A269V	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	235	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					ACACCAACTGCGATGATTAGG	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DUSP27	92235	broad.mit.edu	37	1	167096392	167096392	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:167096392C>T	uc001geb.1	+	5	2024	c.2024C>T	c.(2023-2025)ACG>ATG	p.T675M		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	675					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GATGGGGACACGACGTCAGTA	0.632												
BAT2L2	23215	broad.mit.edu	37	1	171510344	171510344	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:171510344C>T	uc010pmg.1	+	16	3999	c.3733C>T	c.(3733-3735)CGG>TGG	p.R1245W	BAT2L2_uc010pmh.1_Missense_Mutation_p.R222W	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1245							protein C-terminus binding				0						AAGTGAAACACGGAGTGAGAG	0.468												
DNM3	26052	broad.mit.edu	37	1	171810899	171810899	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:171810899G>A	uc001gie.2	+	1	279	c.103G>A	c.(103-105)GCC>ACC	p.A35T	DNM3_uc001gid.3_Missense_Mutation_p.A35T|DNM3_uc009wwb.2_Missense_Mutation_p.A35T|DNM3_uc001gif.2_Missense_Mutation_p.A35T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	35					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GCCGCAGATCGCCGTGGTGGG	0.687												
TNFSF4	7292	broad.mit.edu	37	1	173155859	173155859	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:173155859G>A	uc001giw.2	-	3	504	c.348C>T	c.(346-348)AGC>AGT	p.S116S	TNFSF4_uc001giv.2_Silent_p.S66S	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	116	Extracellular (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						GGTAATGAAGGCTAATGTTGA	0.458												
TNR	7143	broad.mit.edu	37	1	175306748	175306748	+	Silent	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:175306748C>A	uc001gkp.1	-	17	3531	c.3450G>T	c.(3448-3450)GGG>GGT	p.G1150G	TNR_uc009wwu.1_Silent_p.G1150G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1150	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGGGTAAACCCCACTCAAAG	0.502												
TPR	7175	broad.mit.edu	37	1	186326529	186326529	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:186326529T>G	uc001grv.2	-	14	2021	c.1724A>C	c.(1723-1725)AAA>ACA	p.K575T	TPR_uc010pop.1_Missense_Mutation_p.K651T	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	575	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GACTACTTACTTGGATGAAGT	0.294			T	NTRK1	papillary thyroid							
CFH	3075	broad.mit.edu	37	1	196642190	196642190	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:196642190G>T	uc001gtj.3	+	2	381	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	CFH_uc001gti.3_Missense_Mutation_p.Q47H|CFH_uc009wyw.2_Missense_Mutation_p.Q47H|CFH_uc009wyx.2_Missense_Mutation_p.Q47H	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	47	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AAGGCACCCAGGCTATCTATA	0.398												
NR5A2	2494	broad.mit.edu	37	1	200017345	200017345	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:200017345C>T	uc001gvb.2	+	5	715	c.509C>T	c.(508-510)CCA>CTA	p.P170L	NR5A2_uc001gvc.2_Missense_Mutation_p.P124L|NR5A2_uc009wzh.2_Missense_Mutation_p.P130L|NR5A2_uc010pph.1_Missense_Mutation_p.P98L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	170	FTZ-F1 box.			GP->VA: Reduced DNA binding. Loss of transactivation.	embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AAGTTTGGGCCAATGTACAAG	0.502												
PKP1	5317	broad.mit.edu	37	1	201289462	201289462	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201289462A>G	uc001gwd.2	+	8	1614	c.1363A>G	c.(1363-1365)ATG>GTG	p.M455V	PKP1_uc001gwe.2_Missense_Mutation_p.M434V|PKP1_uc009wzm.2_Missense_Mutation_p.M42V	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	455	ARM 5.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						TGATTCCCTCATGGCCTATGT	0.512												
TNNT2	7139	broad.mit.edu	37	1	201334426	201334426	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201334426G>A	uc001gwf.2	-	10	373	c.304C>T	c.(304-306)CGG>TGG	p.R102W	TNNT2_uc001gwg.2_Missense_Mutation_p.R92W|TNNT2_uc001gwh.2_Missense_Mutation_p.R87W|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Missense_Mutation_p.R33W|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.R67W|TNNT2_uc001gwk.1_Missense_Mutation_p.R33W|TNNT2_uc009wzt.1_Missense_Mutation_p.R92W	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	102			R -> Q (in CMH2).|R -> W (in CMH2).|R -> L (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						ATGCGCTTCCGGTGGATGTCC	0.572												
IPO9	55705	broad.mit.edu	37	1	201821312	201821312	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201821312A>G	uc001gwz.2	+	5	645	c.595A>G	c.(595-597)ATG>GTG	p.M199V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	199					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						GATCTTCACCATGGCTGAGGT	0.438												
KDM5B	10765	broad.mit.edu	37	1	202702680	202702680	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:202702680C>T	uc001gyf.2	-	23	3874	c.3758G>A	c.(3757-3759)CGA>CAA	p.R1253Q	KDM5B_uc009xag.2_Missense_Mutation_p.R1289Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1095Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1253					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AATCATATATCGAAGTGCATC	0.507												
ADORA1	134	broad.mit.edu	37	1	203098016	203098016	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:203098016A>G	uc001gze.1	+	3	480	c.47A>G	c.(46-48)GAG>GGG	p.E16G	ADORA1_uc001gzf.1_Missense_Mutation_p.E16G|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.E49G	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	16	Helical; Name=1; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATCGGCATCGAGGTGCTCATC	0.652												
OPTC	26254	broad.mit.edu	37	1	203468789	203468789	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:203468789G>T	uc001gzu.1	+	5	658	c.542G>T	c.(541-543)AGG>ATG	p.R181M		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	181	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGTTGAAGAGGATTGACCTC	0.502												
RBBP5	5929	broad.mit.edu	37	1	205069381	205069381	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:205069381C>T	uc001hbu.1	-	7	781	c.651G>A	c.(649-651)ACG>ACA	p.T217T	RBBP5_uc010prd.1_Silent_p.T252T|RBBP5_uc001hbv.1_Silent_p.T217T|RBBP5_uc010pre.1_Silent_p.T84T	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	217	WD 4.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGATCTGCCGTGTTAATTA	0.378												
TMCC2	9911	broad.mit.edu	37	1	205238926	205238926	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:205238926C>T	uc001hbz.1	+	4	2040	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	TMCC2_uc010prf.1_Silent_p.H454H|TMCC2_uc001hca.2_Silent_p.H307H|TMCC2_uc001hcb.1_Silent_p.H292H|TMCC2_uc001hcc.1_Silent_p.H153H|TMCC2_uc001hcd.2_Silent_p.H299H	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	532	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACAGTCTCACCTGGAGGACT	0.592												
FCAMR	83953	broad.mit.edu	37	1	207131973	207131973	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:207131973T>C	uc001hfa.3	-	8	2122	c.1622A>G	c.(1621-1623)GAA>GGA	p.E541G	FCAMR_uc001hfb.2_3'UTR|FCAMR_uc009xca.1_3'UTR|FCAMR_uc001hfc.2_Missense_Mutation_p.E516G	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	496	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GGGGTTCACTTCCAGAAAATG	0.537												
KCNH1	3756	broad.mit.edu	37	1	211192542	211192542	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:211192542A>G	uc001hib.2	-	6	785	c.615T>C	c.(613-615)ACT>ACC	p.T205T	KCNH1_uc001hic.2_Silent_p.T205T	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTGAGGGGGAGTCTTTGGTG	0.433												
CABC1	56997	broad.mit.edu	37	1	227169738	227169738	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:227169738C>T	uc001hqm.1	+	11	4160	c.741C>T	c.(739-741)GCC>GCT	p.A247A	CABC1_uc001hqn.1_Silent_p.A247A|CABC1_uc009xeq.1_Silent_p.A195A|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR|CABC1_uc009xer.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	247					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GGAAGAAGGCCGTGCTGGGTT	0.657												
LYST	1130	broad.mit.edu	37	1	235969041	235969041	+	Splice_Site	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:235969041A>G	uc001hxj.2	-	6	3568	c.3393_splice	c.e6+1	p.Q1131_splice	LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site|LYST_uc001hxl.1_Splice_Site_p.Q1131_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAGGTATTACCTGATTAGG	0.269									Chediak-Higashi_syndrome			
ERO1LB	56605	broad.mit.edu	37	1	236406753	236406753	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:236406753A>G	uc001hxt.2	-	6	730	c.474T>C	c.(472-474)GAT>GAC	p.D158D	ERO1LB_uc010pxt.1_Intron	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	158					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCGTGAATCATCATATCTTG	0.269												
ZNF496	84838	broad.mit.edu	37	1	247464167	247464167	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:247464167C>T	uc001ico.2	-	9	1883	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H	ZNF496_uc009xgv.2_Missense_Mutation_p.R509H|ZNF496_uc001icp.2_Missense_Mutation_p.R473H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	473	C2H2-type 3.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGAGTTCAGGCGGAAGCTCTT	0.662												
OR6F1	343169	broad.mit.edu	37	1	247875693	247875693	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:247875693C>T	uc001idj.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCAAGACAGCGGTCATAAGC	0.517												
OPTN	10133	broad.mit.edu	37	10	13174160	13174160	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:13174160C>T	uc001ilu.1	+	14	1933	c.1495C>T	c.(1495-1497)CTG>TTG	p.L499L	OPTN_uc001ilv.1_Silent_p.L499L|OPTN_uc001ilw.1_Silent_p.L499L|OPTN_uc001ilx.1_Silent_p.L499L|OPTN_uc001ily.1_Silent_p.L493L|OPTN_uc010qbr.1_Silent_p.L442L|OPTN_uc001ilz.1_Silent_p.L493L	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	499	Potential.|Interaction with MYO6.|Interaction with HD.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						GCTGGCAGTTCTGCTGAAAGA	0.478												
RPP38	10557	broad.mit.edu	37	10	15145637	15145637	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:15145637C>T	uc001iny.3	+	3	1037	c.324C>T	c.(322-324)CAC>CAT	p.H108H	RPP38_uc009xjm.2_Silent_p.H108H|RPP38_uc001inx.3_Silent_p.H108H	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	108					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						CGCCTGCACACGTCAGGAAGC	0.483												
ITGA8	8516	broad.mit.edu	37	10	15590532	15590532	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:15590532A>G	uc001ioc.1	-	27	2802	c.2802T>C	c.(2800-2802)TGT>TGC	p.C934C	ITGA8_uc010qcb.1_Silent_p.C919C	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	934	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GTCCCACTGCACAGGAGATTT	0.458												
GPR158	57512	broad.mit.edu	37	10	25887710	25887710	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:25887710C>A	uc001isj.2	+	11	3215	c.3155C>A	c.(3154-3156)CCT>CAT	p.P1052H	GPR158_uc001isk.2_Missense_Mutation_p.P427H	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1052	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CACCACAAGCCTAAGGCAGCT	0.443												
ZNF488	118738	broad.mit.edu	37	10	48370748	48370748	+	Silent	SNP	G	G	A	rs147280746		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:48370748G>A	uc001jex.2	+	2	378	c.216G>A	c.(214-216)GCG>GCA	p.A72A	ZNF488_uc001jey.2_Intron	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGGCAGTGCGGAGCTGGCAC	0.701												
OGDHL	55753	broad.mit.edu	37	10	50959982	50959982	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:50959982C>T	uc001jie.2	-	6	782	c.640G>A	c.(640-642)GAT>AAT	p.D214N	OGDHL_uc009xog.2_Missense_Mutation_p.D241N|OGDHL_uc010qgt.1_Missense_Mutation_p.D157N|OGDHL_uc010qgu.1_Missense_Mutation_p.D5N|OGDHL_uc009xoh.2_Missense_Mutation_p.D5N	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	214					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TGCTCCACATCGTTGATGAAC	0.597												
TMEM26	219623	broad.mit.edu	37	10	63170171	63170171	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:63170171T>C	uc001jlo.2	-	6	1385	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	339						integral to membrane					0	Prostate(12;0.0112)					CCAGTCCCGCTGAGAGGGCCC	0.582												
DNAJC12	56521	broad.mit.edu	37	10	69565413	69565413	+	Missense_Mutation	SNP	C	C	T	rs74142901	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:69565413C>T	uc001jnb.2	-	4	598	c.430G>A	c.(430-432)GCA>ACA	p.A144T		NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	144					protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						GTTTTCTCTGCGGTTGAAGCC	0.443												
HK1	3098	broad.mit.edu	37	10	71139659	71139659	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:71139659G>A	uc001jpl.3	+	9	1174	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	HK1_uc001jpg.3_Missense_Mutation_p.R346H|HK1_uc001jph.3_Missense_Mutation_p.R362H|HK1_uc001jpi.3_Missense_Mutation_p.R362H|HK1_uc001jpj.3_Missense_Mutation_p.R393H|HK1_uc001jpk.3_Missense_Mutation_p.R357H|HK1_uc009xqd.2_Missense_Mutation_p.R236H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	358	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCCTGACCCGCCTGGGAGTG	0.537												
TACR2	6865	broad.mit.edu	37	10	71175906	71175906	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:71175906G>A	uc001jpn.2	-	1	769	c.174C>T	c.(172-174)ATC>ATT	p.I58I		NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	58	Cytoplasmic (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			prostate(1)	1					Clonidine(DB00575)|Octreotide(DB00104)	GATGGGCCAGGATGATCCAGA	0.597												
KIAA1274	27143	broad.mit.edu	37	10	72285775	72285775	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:72285775G>A	uc001jrd.3	+	2	349	c.68G>A	c.(67-69)GGC>GAC	p.G23D		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	23										ovary(2)|central_nervous_system(1)	3						GGCCTACAGGGCAGTGGCACG	0.602												
CDH23	64072	broad.mit.edu	37	10	73464803	73464803	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:73464803C>T	uc001jrx.3	+	24	3246	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C	CDH23_uc001jry.2_Missense_Mutation_p.R573C|CDH23_uc001jrz.2_Missense_Mutation_p.R573C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	957	Cadherin 9.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGACCGCGAGCGCATCGCGGA	0.677												
DDIT4	54541	broad.mit.edu	37	10	74034058	74034058	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:74034058G>A	uc001jsx.1	+	2	286	c.84G>A	c.(82-84)CGG>CGA	p.R28R		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	28					apoptosis					pancreas(1)	1						CCCCAGATCGGCCGCCGCGCT	0.677												
LIPA	3988	broad.mit.edu	37	10	90984920	90984920	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:90984920G>T	uc001kga.3	-	6	772	c.604C>A	c.(604-606)CCT>ACT	p.P202T	LIPA_uc001kgb.3_Missense_Mutation_p.P146T|LIPA_uc001kgc.3_Missense_Mutation_p.P204T|LIPA_uc010qnf.1_Missense_Mutation_p.P7T|LIPA_uc009xtq.2_Missense_Mutation_p.P202T|LIPA_uc009xtr.1_5'Flank	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	202					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GAAGCCACAGGACCCAGGGCA	0.458												
CEP55	55165	broad.mit.edu	37	10	95287825	95287825	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:95287825T>C	uc009xug.2	+	9	1492	c.1310T>C	c.(1309-1311)CTG>CCG	p.L437P	CEP55_uc001kiq.3_Missense_Mutation_p.L437P	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	437	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AATGAAAGCCTGGTGGAATGT	0.453												
CYP2C19	1557	broad.mit.edu	37	10	96602617	96602617	+	Missense_Mutation	SNP	C	C	T	rs59734894		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:96602617C>T	uc010qnz.1	+	7	985	c.985C>T	c.(985-987)CGT>TGT	p.R329C	CYP2C19_uc010qny.1_Missense_Mutation_p.R307C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	329			R -> H (in allele CYP2C19*18).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGATTGAACGTGTCGTTGG	0.493												
PDCD4	27250	broad.mit.edu	37	10	112641116	112641116	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:112641116G>A	uc001kzh.2	+	3	412	c.169G>A	c.(169-171)GCC>ACC	p.A57T	PDCD4_uc001kzg.2_Missense_Mutation_p.A46T|PDCD4_uc010qre.1_Missense_Mutation_p.A43T	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	57					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGAATTAATGCCAAGGCAAA	0.448												
TCF7L2	6934	broad.mit.edu	37	10	114925398	114925398	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:114925398G>A	uc001lae.3	+	14	1983	c.1476G>A	c.(1474-1476)TCG>TCA	p.S492S	TCF7L2_uc001lac.3_Silent_p.S486S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S469S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S469S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S424S|TCF7L2_uc010qrs.1_Silent_p.S380S|TCF7L2_uc010qrt.1_Silent_p.S380S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	509					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACTAGATTCGCCTCCCCCCT	0.587												
TACC2	10579	broad.mit.edu	37	10	123842651	123842651	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:123842651G>A	uc001lfv.2	+	4	996	c.636G>A	c.(634-636)CCG>CCA	p.P212P	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P212P|TACC2_uc010qtv.1_Silent_p.P212P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	212						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAAGGCACCGCTGTGTGGAG	0.592												
DMBT1	1755	broad.mit.edu	37	10	124348577	124348577	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:124348577A>G	uc001lgk.1	+	17	2007	c.1901A>G	c.(1900-1902)AAT>AGT	p.N634S	DMBT1_uc001lgl.1_Missense_Mutation_p.N624S|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.N634S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	634	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGACACCAATGATGCCAAT	0.617												
DMBT1	1755	broad.mit.edu	37	10	124348581	124348581	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:124348581T>C	uc001lgk.1	+	17	2011	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DMBT1_uc001lgl.1_Silent_p.D625D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.D635D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	635	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACACCAATGATGCCAATGTGG	0.607												
FAM196A	642938	broad.mit.edu	37	10	128974382	128974382	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2						GATGGACCTGCGTGCGGGCAC	0.617												
KNDC1	85442	broad.mit.edu	37	10	135026342	135026342	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:135026342C>T	uc001llz.1	+	24	4360	c.4359C>T	c.(4357-4359)TGC>TGT	p.C1453C		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACGGCCCCTGCGCCAAGACCA	0.647												
CDHR5	53841	broad.mit.edu	37	11	618676	618676	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:618676G>T	uc001lqj.2	-	13	1988	c.1883C>A	c.(1882-1884)CCC>CAC	p.P628H	IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.P462H|CDHR5_uc009ycd.2_Missense_Mutation_p.P622H|CDHR5_uc001lql.2_Missense_Mutation_p.P628H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	628	4 X 31 AA approximate tandem repeats.|3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCCCCCACCGGGTGTGGTTGG	0.652												
CEND1	51286	broad.mit.edu	37	11	788350	788350	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:788350C>A	uc001lrh.1	-	2	406	c.227G>T	c.(226-228)AGC>ATC	p.S76I		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	76	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCAGGTTGCTGTGGTTGTT	0.697												
LSP1	4046	broad.mit.edu	37	11	1908026	1908026	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:1908026C>T	uc001lui.2	+	8	957	c.782C>T	c.(781-783)GCC>GTC	p.A261V	LSP1_uc001luj.2_Missense_Mutation_p.A389V|LSP1_uc001luk.2_Missense_Mutation_p.A199V|LSP1_uc001lul.2_Missense_Mutation_p.A199V|LSP1_uc001lum.2_Missense_Mutation_p.A199V	NM_002339	NP_002330	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 1	261					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATGGCTGTGGCCAGTACCAAG	0.632												
OR52D1	390066	broad.mit.edu	37	11	5510803	5510803	+	Silent	SNP	T	T	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:5510803T>A	uc010qzg.1	+	1	867	c.867T>A	c.(865-867)CCT>CCA	p.P289P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGCCTCCTGTACTCAATC	0.493												
RBMXL2	27288	broad.mit.edu	37	11	7111134	7111134	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:7111134C>T	uc001mfc.2	+	1	970	c.783C>T	c.(781-783)GAC>GAT	p.D261D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	261	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGACCGAGACGGCTACGGAG	0.667												
SCUBE2	57758	broad.mit.edu	37	11	9090969	9090969	+	Silent	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:9090969G>T	uc001mhh.1	-	5	671	c.591C>A	c.(589-591)GCC>GCA	p.A197A	SCUBE2_uc001mhi.1_Silent_p.A197A|SCUBE2_uc001mhj.1_Silent_p.A197A	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	197	EGF-like 4 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCACTCACAGGCGACGCTGC	0.567												
SBF2	81846	broad.mit.edu	37	11	9838486	9838486	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:9838486C>A	uc001mib.2	-	29	4017	c.3879G>T	c.(3877-3879)AAG>AAT	p.K1293N	SBF2_uc001mid.2_Translation_Start_Site	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1293	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGAGTGATCCTTGCCTGCCA	0.512												
MRGPRX2	117194	broad.mit.edu	37	11	19077802	19077802	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:19077802A>C	uc001mph.2	-	2	236	c.148T>G	c.(148-150)TTT>GTT	p.F50V		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	50	Helical; Name=1; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CAGAGCACAAACCCGTTTCCT	0.582												
SLC6A5	9152	broad.mit.edu	37	11	20648274	20648274	+	Silent	SNP	G	G	A	rs148416271		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:20648274G>A	uc001mqd.2	+	8	1554	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T	SLC6A5_uc009yic.2_Silent_p.T192T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	427	Helical; Name=5; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	TCACGGCCACGTTCCCGTATG	0.577												
ANO3	63982	broad.mit.edu	37	11	26681879	26681879	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:26681879G>A	uc001mqt.3	+	27	2979	c.2834G>A	c.(2833-2835)CGA>CAA	p.R945Q	ANO3_uc010rdr.1_Missense_Mutation_p.R929Q|ANO3_uc010rds.1_Missense_Mutation_p.R784Q|ANO3_uc010rdt.1_Missense_Mutation_p.R799Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	945	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTACATGACCGAATACGACGA	0.408												
PAX6	5080	broad.mit.edu	37	11	31822286	31822286	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:31822286C>T	uc001mtd.3	-	6	1366	c.476G>A	c.(475-477)CGC>CAC	p.R159H	PAX6_uc001mte.3_Missense_Mutation_p.R159H|PAX6_uc001mtg.3_Missense_Mutation_p.R173H|PAX6_uc001mtf.3_Missense_Mutation_p.R159H|PAX6_uc001mth.3_Missense_Mutation_p.R159H|PAX6_uc009yjr.2_Missense_Mutation_p.R159H	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	159	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CCAACCAGGGCGGGTGCCCCA	0.567									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
CKAP5	9793	broad.mit.edu	37	11	46792495	46792495	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:46792495C>T	uc001ndi.1	-	25	3139	c.3029G>A	c.(3028-3030)CGT>CAT	p.R1010H	CKAP5_uc009ylg.1_Missense_Mutation_p.R896H|CKAP5_uc001ndj.1_Missense_Mutation_p.R1010H|CKAP5_uc001ndh.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1010					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						AGGGGTGGAACGAAGAGTAGG	0.448												
MYBPC3	4607	broad.mit.edu	37	11	47364468	47364468	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47364468G>A	uc001nfa.3	-	15	1425	c.1370C>T	c.(1369-1371)ACG>ATG	p.T457M	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	456	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CAAGGGGCGCGTGATGAGCAC	0.627												
SLC39A13	91252	broad.mit.edu	37	11	47431938	47431938	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47431938G>A	uc009ylq.2	+	2	464	c.293G>A	c.(292-294)CGC>CAC	p.R98H	SLC39A13_uc001nfd.2_Missense_Mutation_p.R98H|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Missense_Mutation_p.R98H|SLC39A13_uc001nfg.3_Missense_Mutation_p.R98H	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	98	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		ACCATGCTGCGCTCAGAAGGT	0.617												
C1QTNF4	114900	broad.mit.edu	37	11	47611586	47611586	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47611586G>A	uc001ngc.2	-	2	1044	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	259	C1q 2.					extracellular region					0						CGCCGTCGTCGTAAATCATGG	0.667												
PTPRJ	5795	broad.mit.edu	37	11	48177365	48177365	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:48177365G>A	uc001ngp.3	+	20	3597	c.3242G>A	c.(3241-3243)CGT>CAT	p.R1081H		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1081	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GATATTTCCCGTGTCAAACTT	0.393												
OR4C16	219428	broad.mit.edu	37	11	55340006	55340006	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55340006A>T	uc010rih.1	+	1	403	c.403A>T	c.(403-405)AGC>TGC	p.S135C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GACCATCATAAGCCAGTGGGT	0.507												
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55433006G>A	uc001nht.3	+	3	629	c.364G>A	c.(364-366)GTG>ATG	p.V122M	OR4C6_uc010rik.1_Missense_Mutation_p.V122M	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGACCGCTACGTGGCCATCTG	0.547												
OR5D13	390142	broad.mit.edu	37	11	55541274	55541274	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55541274G>A	uc010ril.1	+	1	361	c.361G>A	c.(361-363)GCT>ACT	p.A121T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	121	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGCAGCGATGGCTTATGACCG	0.438												
FEN1	2237	broad.mit.edu	37	11	61563792	61563792	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:61563792G>A	uc001nsg.2	+	2	1331	c.959G>A	c.(958-960)CGA>CAA	p.R320Q		NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	320					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			ovary(1)	1						TCTGAGGAGCGAATCCGCAGT	0.557								Direct_reversal_of_damage|Editing_and_processing_nucleases				
GANAB	23193	broad.mit.edu	37	11	62397116	62397116	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62397116C>T	uc001nub.2	-	15	1811	c.1778G>A	c.(1777-1779)GGC>GAC	p.G593D	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.G615D|GANAB_uc001nuc.2_Missense_Mutation_p.G496D|GANAB_uc010rma.1_Missense_Mutation_p.G501D|GANAB_uc010rmb.1_Missense_Mutation_p.G479D	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	593					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GCGTTCCATGCCCCCAGAGCG	0.592												
INTS5	80789	broad.mit.edu	37	11	62416160	62416160	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62416160C>T	uc001nud.2	-	2	1445	c.1392G>A	c.(1390-1392)CCG>CCA	p.P464P	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	464					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GAGGTGGGGGCGGGCCTAGCA	0.587												
NXF1	10482	broad.mit.edu	37	11	62569046	62569046	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62569046G>A	uc001nvf.1	-	7	833	c.697C>T	c.(697-699)CGT>TGT	p.R233C	NXF1_uc001nvg.1_Missense_Mutation_p.R233C|NXF1_uc009yog.1_Missense_Mutation_p.R276C|NXF1_uc010rmh.1_Missense_Mutation_p.R96C	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	233	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GGGTCTGAACGGAGGCCTTTG	0.478												
EHBP1L1	254102	broad.mit.edu	37	11	65357965	65357965	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:65357965T>C	uc001oeo.3	+	16	4450	c.4185T>C	c.(4183-4185)GGT>GGC	p.G1395G		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	1395	Potential.									central_nervous_system(1)	1						CCAATGCAGGTGCCAACAAGC	0.627												
FGF19	9965	broad.mit.edu	37	11	69514175	69514175	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:69514175A>G	uc001opf.2	-	3	969	c.506T>C	c.(505-507)CTG>CCG	p.L169P		NM_005117	NP_005108	O95750	FGF19_HUMAN	fibroblast growth factor 19 precursor	169					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			skin(1)	1	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GACCATGGGCAGCATGGGCAG	0.587												
INPPL1	3636	broad.mit.edu	37	11	71946233	71946233	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:71946233G>A	uc001osf.2	+	22	2636	c.2489G>A	c.(2488-2490)GGC>GAC	p.G830D	INPPL1_uc001osg.2_Missense_Mutation_p.G588D	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	830					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TCCATGGATGGCTATGAATCC	0.547												
MOGAT2	80168	broad.mit.edu	37	11	75438523	75438523	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:75438523C>T	uc010rru.1	+	3	314	c.314C>T	c.(313-315)GCG>GTG	p.A105V	MOGAT2_uc001oww.1_Missense_Mutation_p.A105V|MOGAT2_uc010rrv.1_Missense_Mutation_p.A23V	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	105	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					AACTACATTGCGGGCTTCCAC	0.502												
CAPN5	726	broad.mit.edu	37	11	76826541	76826541	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:76826541G>A	uc001oxx.2	+	6	985	c.800G>A	c.(799-801)GGC>GAC	p.G267D	CAPN5_uc009yup.2_Missense_Mutation_p.G307D|CAPN5_uc009yuq.2_Missense_Mutation_p.G303D|CAPN5_uc001oxy.2_Missense_Mutation_p.G307D	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	267	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTGGGCCACGGCCTACTGGCC	0.657												
TYR	7299	broad.mit.edu	37	11	88961040	88961040	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:88961040G>A	uc001pcs.2	+	3	1168	c.1086G>A	c.(1084-1086)ATG>ATA	p.M362I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	362	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCATGCACAATGCCT	0.393									Oculocutaneous_Albinism			
TRPC6	7225	broad.mit.edu	37	11	101375313	101375313	+	Silent	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:101375313C>A	uc001pgk.3	-	2	812	c.387G>T	c.(385-387)GTG>GTT	p.V129V	TRPC6_uc009ywy.2_Silent_p.V129V|TRPC6_uc009ywz.1_Silent_p.V129V	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	129	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCATGTAATCCACACAGTTAA	0.463												
PDGFD	80310	broad.mit.edu	37	11	104034581	104034581	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:104034581C>T	uc001phq.2	-	1	447	c.75G>A	c.(73-75)CCG>CCA	p.P25P	PDGFD_uc001php.2_Silent_p.P25P	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	25					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)		ATGCGCTCTGCGGGGTTGCAG	0.458											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EXPH5	23086	broad.mit.edu	37	11	108383972	108383972	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:108383972G>A	uc001pkk.2	-	6	2373	c.2262C>T	c.(2260-2262)AAC>AAT	p.N754N	EXPH5_uc010rvy.1_Silent_p.N566N|EXPH5_uc010rvz.1_Silent_p.N598N|EXPH5_uc010rwa.1_Silent_p.N678N	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	754					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACCAAACCCGTTGCTCTTGG	0.413												
LAYN	143903	broad.mit.edu	37	11	111425294	111425294	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:111425294G>A	uc001plr.1	+	5	910	c.574G>A	c.(574-576)GCA>ACA	p.A192T	LAYN_uc001plp.1_Missense_Mutation_p.A184T|LAYN_uc001plq.1_Missense_Mutation_p.A192T|LAYN_uc001pls.1_Missense_Mutation_p.A184T|LAYN_uc010rwg.1_Missense_Mutation_p.A39T|LAYN_uc010rwh.1_Missense_Mutation_p.A40T	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	192	Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGAGAAACCAGCAGTTCCTTC	0.393												
PPP2R1B	5519	broad.mit.edu	37	11	111623020	111623020	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:111623020C>A	uc001plx.1	-	10	1285	c.1201G>T	c.(1201-1203)GAT>TAT	p.D401Y	PPP2R1B_uc001plw.1_Missense_Mutation_p.D401Y|PPP2R1B_uc010rwi.1_Missense_Mutation_p.D337Y|PPP2R1B_uc010rwj.1_Missense_Mutation_p.D240Y|PPP2R1B_uc010rwk.1_Missense_Mutation_p.D356Y|PPP2R1B_uc010rwl.1_Missense_Mutation_p.D274Y	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	401	HEAT 10.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTACACAATCCAAATTGGAG	0.473												
USP28	57646	broad.mit.edu	37	11	113711447	113711447	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:113711447C>T	uc001poh.2	-	5	440	c.407G>A	c.(406-408)CGC>CAC	p.R136H	USP28_uc010rwy.1_Missense_Mutation_p.R11H|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R136H|USP28_uc010rwz.1_Missense_Mutation_p.R136H	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	136					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTTGAGCGTTTAGTTTC	0.428												
MPZL2	10205	broad.mit.edu	37	11	118133655	118133655	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:118133655A>G	uc001psn.2	-	2	357	c.216T>C	c.(214-216)CCT>CCC	p.P72P	MPZL2_uc001pso.2_Silent_p.P72P|MPZL2_uc001psp.1_Silent_p.P72P	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	72	Extracellular (Potential).|Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAAACTGCTCAGGTCCCCCGT	0.438												
BCL9L	283149	broad.mit.edu	37	11	118773299	118773299	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:118773299C>T	uc001pug.2	-	6	2118	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T	BCL9L_uc009zal.2_Missense_Mutation_p.A380T	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	385	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TTTCCAGGGGCGGCTGCCTCC	0.677												
KIRREL3	84623	broad.mit.edu	37	11	126318959	126318959	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:126318959A>G	uc001qea.2	-	8	1303	c.942T>C	c.(940-942)TGT>TGC	p.C314C	KIRREL3_uc001qeb.2_Silent_p.C314C|KIRREL3_uc001qec.1_Silent_p.C314C	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	314	Extracellular (Potential).|Ig-like C2-type 3.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGGTCACCTCACAGGAGACGG	0.612												
C12orf5	57103	broad.mit.edu	37	12	4446292	4446292	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:4446292A>G	uc001qmp.2	+	3	237	c.158A>G	c.(157-159)CAT>CGT	p.H53R		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	53						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGTTTACTCATGCTTTCTCC	0.269												
KCNA5	3741	broad.mit.edu	37	12	5154130	5154130	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGAGACCCTGCCTGAGTTCAG	0.672												
GPR162	27239	broad.mit.edu	37	12	6933431	6933431	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:6933431G>A	uc001qqw.1	+	2	902	c.367G>A	c.(367-369)GTC>ATC	p.V123I	GPR162_uc010sfn.1_Missense_Mutation_p.V123I|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	123	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCGCTGGCCCGTCAACTACCG	0.612												
CLSTN3	9746	broad.mit.edu	37	12	7290621	7290621	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:7290621T>C	uc001qsr.2	+	8	1559	c.1281T>C	c.(1279-1281)CTT>CTC	p.L427L	CLSTN3_uc001qss.2_Silent_p.L439L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	427	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GGCCCCTGCTTGAGAGTGCCC	0.582												
ABCC9	10060	broad.mit.edu	37	12	22065846	22065846	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:22065846C>T	uc001rfi.1	-	6	991	c.971G>A	c.(970-972)CGT>CAT	p.R324H	ABCC9_uc001rfh.2_Missense_Mutation_p.R324H|ABCC9_uc001rfj.1_Missense_Mutation_p.R324H	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	324	Extracellular (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCATTCACACGCTGAACTAT	0.393												
TMTC1	83857	broad.mit.edu	37	12	29709910	29709910	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:29709910G>A	uc001rjb.2	-	10	1706	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	TMTC1_uc001riz.2_Missense_Mutation_p.A168V|TMTC1_uc001rja.2_Missense_Mutation_p.A255V|TMTC1_uc001rjc.1_Missense_Mutation_p.A473V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 2.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTTGAGCGCACTTGCATG	0.463												
SYT10	341359	broad.mit.edu	37	12	33532788	33532788	+	Silent	SNP	C	C	T	rs138986207	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:33532788C>T	uc001rll.1	-	6	1776	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	SYT10_uc009zju.1_Silent_p.T303T	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	493	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTGCCAGTGCGTTATTGGTT	0.438												
SFRS2IP	9169	broad.mit.edu	37	12	46316903	46316903	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:46316903A>G	uc001rox.2	-	13	4228	c.3941T>C	c.(3940-3942)ATG>ACG	p.M1314T	SFRS2IP_uc001row.2_Missense_Mutation_p.M999T	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1314					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TGGTGTACTCATGTTATTACT	0.403												
LMBR1L	55716	broad.mit.edu	37	12	49497522	49497522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:49497522C>T	uc001rth.3	-	6	852	c.510G>A	c.(508-510)TGG>TGA	p.W170*	LMBR1L_uc001rtg.3_Nonsense_Mutation_p.W165*|LMBR1L_uc001rti.3_Nonsense_Mutation_p.W170*|LMBR1L_uc001rtj.1_Nonsense_Mutation_p.W14*|LMBR1L_uc009zld.1_Nonsense_Mutation_p.W43*|LMBR1L_uc010smf.1_RNA	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	170	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						CTGATGCCACCCACACCATAC	0.567												
GPD1	2819	broad.mit.edu	37	12	50501571	50501571	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:50501571G>A	uc001rvz.2	+	6	867	c.834G>A	c.(832-834)GCG>GCA	p.A278A	GPD1_uc001rwa.2_Silent_p.A255A	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	278					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	AGGCCTTTGCGCGTACAGGAA	0.607												
KRT73	319101	broad.mit.edu	37	12	53012125	53012125	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53012125C>T	uc001sas.2	-	1	219	c.184G>A	c.(184-186)GCC>ACC	p.A62T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	62	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCCACTGGCCACATTGAAA	0.637												
KRT4	3851	broad.mit.edu	37	12	53207645	53207645	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53207645A>G	uc001saz.2	-	1	691	c.420T>C	c.(418-420)GCT>GCC	p.A140A		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	66						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GTCGTGACCCAGCCACACTCA	0.587												
KRT79	338785	broad.mit.edu	37	12	53216893	53216893	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53216893A>G	uc001sbb.2	-	7	1307	c.1274T>C	c.(1273-1275)CTG>CCG	p.L425P	KRT79_uc001sba.2_Missense_Mutation_p.L196P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	425	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GTCACGCAGCAGCCGTGTCAG	0.612												
DNAJC14	85406	broad.mit.edu	37	12	56216252	56216252	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56216252A>G	uc001shx.1	-	6	2007	c.1803T>C	c.(1801-1803)GCT>GCC	p.A601A	DNAJC14_uc001shu.1_Silent_p.A601A|DNAJC14_uc009zob.1_Silent_p.A601A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	601					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GCTGGCATCCAGCCCACTCTA	0.483											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ESYT1	23344	broad.mit.edu	37	12	56526118	56526118	+	Splice_Site	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56526118T>C	uc001sjq.2	+	8	1034	c.984_splice	c.e8+2	p.R328_splice	ESYT1_uc001sjr.2_Splice_Site_p.R328_splice	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1							integral to membrane				ovary(4)|skin(1)	5						CTGCCCAGGGTATGGCCTTTC	0.537												
GRIP1	23426	broad.mit.edu	37	12	66814538	66814538	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:66814538G>A	uc001stk.2	-	14	1885	c.1644C>T	c.(1642-1644)CTC>CTT	p.L548L	GRIP1_uc010sta.1_Silent_p.L492L|GRIP1_uc001stj.2_Silent_p.L330L|GRIP1_uc001stl.1_Silent_p.L440L|GRIP1_uc001stm.2_Silent_p.L548L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	600	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTGAAATGACGAGGGGGTCTC	0.383												
UHRF1BP1L	23074	broad.mit.edu	37	12	100453818	100453818	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:100453818G>T	uc001tgq.2	-	13	1782	c.1553C>A	c.(1552-1554)CCA>CAA	p.P518Q	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.P168Q	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	518										ovary(2)	2						GTTGGGAGATGGAACTGTGGA	0.328												
BTBD11	121551	broad.mit.edu	37	12	107712874	107712874	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:107712874C>T	uc001tmk.1	+	1	678	c.157C>T	c.(157-159)CCG>TCG	p.P53S	BTBD11_uc009zut.1_Missense_Mutation_p.P53S|BTBD11_uc001tmj.2_Missense_Mutation_p.P53S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	53						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAGCTGCTGGCCGCCTCTAGC	0.652												
DAO	1610	broad.mit.edu	37	12	109292531	109292531	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:109292531A>G	uc001tnr.3	+	9	925	c.772A>G	c.(772-774)ACC>GCC	p.T258A	DAO_uc001tnq.3_Missense_Mutation_p.T192A|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	258					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GGACCACAACACCATTTGGGA	0.507												
KDM2B	84678	broad.mit.edu	37	12	121868159	121868159	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:121868159T>C	uc001uat.2	-	23	4047	c.3943A>G	c.(3943-3945)ATA>GTA	p.I1315V	KDM2B_uc001uaq.2_Missense_Mutation_p.I755V|KDM2B_uc010szy.1_Missense_Mutation_p.I755V|KDM2B_uc001uar.2_Missense_Mutation_p.I906V|KDM2B_uc001uas.2_Missense_Mutation_p.I1246V|KDM2B_uc001uau.2_3'UTR|RNF34_uc001uam.1_Silent_p.Y462Y|KDM2B_uc001uao.2_Missense_Mutation_p.I563V|KDM2B_uc010szx.1_Missense_Mutation_p.I563V|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1315	LRR 7.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						ATCTCGGCTATGAACTGCTCA	0.473												
ULK1	8408	broad.mit.edu	37	12	132401542	132401542	+	Missense_Mutation	SNP	C	C	T	rs148705404		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:132401542C>T	uc001uje.2	+	21	2385	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	706					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTTAAGGCGGCGTTTGGGACA	0.592												
POLE	5426	broad.mit.edu	37	12	133220551	133220551	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:133220551G>T	uc001uks.1	-	33	4206	c.4162C>A	c.(4162-4164)CTT>ATT	p.L1388I	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.L192I|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.L1361I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1388					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGCGAGGAAGGACCCGATTT	0.507								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
PSPC1	55269	broad.mit.edu	37	13	20304416	20304416	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:20304416C>T	uc001uml.2	-	6	1307	c.1121G>A	c.(1120-1122)CGA>CAA	p.R374Q	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	374	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CTCTTGCTGTCGCCTCAGTTC	0.368												
CSNK1A1L	122011	broad.mit.edu	37	13	37679009	37679009	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:37679009T>C	uc001uwm.1	-	1	793	c.385A>G	c.(385-387)ACA>GCA	p.T129A		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	129	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAATTCTTTGTATGCACGTAT	0.398												
SLITRK5	26050	broad.mit.edu	37	13	88328996	88328996	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:88328996C>T	uc001vln.2	+	2	1572	c.1353C>T	c.(1351-1353)CGC>CGT	p.R451R	SLITRK5_uc010tic.1_Silent_p.R210R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	451	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCAGGACCGCGCTTTCGGGG	0.597												
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458												
NALCN	259232	broad.mit.edu	37	13	101936304	101936304	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:101936304G>A	uc001vox.1	-	10	1303	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	NALCN_uc001voy.2_Missense_Mutation_p.R87C|NALCN_uc001voz.2_Missense_Mutation_p.R372C|NALCN_uc001vpa.2_Missense_Mutation_p.R372C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	372	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGGGCGCGTCCCTGGGGC	0.473												
NALCN	259232	broad.mit.edu	37	13	102047547	102047547	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:102047547C>T	uc001vox.1	-	3	467	c.278G>A	c.(277-279)CGG>CAG	p.R93Q	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R93Q|NALCN_uc001vpa.2_Missense_Mutation_p.R93Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	93	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACAATGCCCCGGATGTGCAT	0.383												
LIG4	3981	broad.mit.edu	37	13	108861173	108861173	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:108861173C>T	uc001vqn.2	-	2	2717	c.2444G>A	c.(2443-2445)CGC>CAC	p.R815H	LIG4_uc001vqo.2_Missense_Mutation_p.R815H|LIG4_uc010agg.1_Missense_Mutation_p.R748H|LIG4_uc010agf.2_Missense_Mutation_p.R815H|LIG4_uc001vqp.2_Missense_Mutation_p.R815H	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	815	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACGGTGTGGCGTCGAAACAT	0.418								NHEJ				
FAM70B	348013	broad.mit.edu	37	13	114498133	114498133	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:114498133A>T	uc001vuh.2	+	4	292	c.265A>T	c.(265-267)ATC>TTC	p.I89F		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	89	Helical; (Potential).					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGTGGCAGCGATCGTGTTTAT	0.542												
RABGGTA	5875	broad.mit.edu	37	14	24737770	24737770	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:24737770C>T	uc001wof.2	-	9	1378	c.956G>A	c.(955-957)CGC>CAC	p.R319H	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.R319H|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	319					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		CCAAATGACGCGAAATGTATG	0.537												
BAZ1A	11177	broad.mit.edu	37	14	35231352	35231352	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:35231352C>T	uc001wsk.2	-	24	4422	c.3854G>A	c.(3853-3855)CGT>CAT	p.R1285H	BAZ1A_uc001wsl.2_Missense_Mutation_p.R1253H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1285					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGTTGGCCACGACTTGAGAA	0.408												
CLEC14A	161198	broad.mit.edu	37	14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:38724284G>A	uc001wum.1	-	1	1291	c.944C>T	c.(943-945)CCG>CTG	p.P315L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617												
KLHL28	54813	broad.mit.edu	37	14	45414684	45414684	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:45414684G>A	uc001wvq.2	-	2	694	c.448C>T	c.(448-450)CGT>TGT	p.R150C	KLHL28_uc001wvr.2_Missense_Mutation_p.R150C|KLHL28_uc001wvt.3_Missense_Mutation_p.R150C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	150										ovary(1)	1						TAAAGGTCACGGCAACCATAT	0.383												
MDGA2	161357	broad.mit.edu	37	14	47504254	47504254	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:47504254G>A	uc001wwj.3	-	8	1768	c.1572C>T	c.(1570-1572)AAC>AAT	p.N524N	MDGA2_uc001wwi.3_Silent_p.N295N|MDGA2_uc010ani.2_Silent_p.N84N	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	524	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.G524C(1)		ovary(4)|large_intestine(1)|pancreas(1)	6						TTGGTTTCACGTTAAATCCAT	0.413												
ATL1	51062	broad.mit.edu	37	14	51087357	51087357	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:51087357T>G	uc001wyf.3	+	9	1144	c.903T>G	c.(901-903)ATT>ATG	p.I301M	ATL1_uc001wyd.3_Missense_Mutation_p.I301M|ATL1_uc001wye.3_Missense_Mutation_p.I301M	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	301	Cytoplasmic.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			skin(3)|central_nervous_system(1)	4						AAATACTGATTCCTTGGCTAC	0.388												
SPTB	6710	broad.mit.edu	37	14	65262292	65262292	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:65262292G>A	uc001xht.2	-	11	1461	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	SPTB_uc001xhr.2_Silent_p.T469T|SPTB_uc001xhs.2_Silent_p.T469T|SPTB_uc001xhu.2_Silent_p.T469T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	469	Spectrin 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCCGTGTCGGTCTCGATGG	0.602												
ACOT6	641372	broad.mit.edu	37	14	74086200	74086200	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:74086200T>G	uc001xop.2	+	2	612	c.281T>G	c.(280-282)CTT>CGT	p.L94R		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	94						cytosol	carboxylesterase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACCAAAGTCTTGTTCCATTG	0.423												
NEK9	91754	broad.mit.edu	37	14	75562092	75562092	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:75562092C>T	uc001xrl.2	-	18	2370	c.2216G>A	c.(2215-2217)GGC>GAC	p.G739D	NEK9_uc001xrk.2_Missense_Mutation_p.G239D	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	739	Interaction with NEK6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AATGGATAAGCCACTGCTATT	0.383												
EML5	161436	broad.mit.edu	37	14	89088957	89088957	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:89088957G>A	uc001xxg.2	-	37	5190	c.5004C>T	c.(5002-5004)TGC>TGT	p.C1668C	EML5_uc001xxf.2_Silent_p.C455C|EML5_uc001xxh.1_Silent_p.C799C|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_5'Flank	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1660						cytoplasm|microtubule				ovary(3)	3						CTTTGCCTCTGCACACAGAAC	0.483												
C14orf159	80017	broad.mit.edu	37	14	91681783	91681783	+	Silent	SNP	C	C	T	rs146936755	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:91681783C>T	uc001xzb.2	+	15	2352	c.1584C>T	c.(1582-1584)TGC>TGT	p.C528C	C14orf159_uc001xyx.2_Silent_p.C476C|C14orf159_uc001xyw.2_Silent_p.C533C|C14orf159_uc001xzc.2_Silent_p.C528C|C14orf159_uc001xza.2_Silent_p.C533C|C14orf159_uc001xyv.2_Silent_p.C493C|C14orf159_uc001xyz.2_Silent_p.C404C|C14orf159_uc001xze.2_Silent_p.C528C	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	528						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCCTGGCCTGCGCACTCTACA	0.542												
LGMN	5641	broad.mit.edu	37	14	93176079	93176079	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:93176079T>C	uc001yav.2	-	12	1284	c.958A>G	c.(958-960)ATG>GTG	p.M320V	LGMN_uc001yat.2_Missense_Mutation_p.M320V|LGMN_uc001yau.2_Missense_Mutation_p.M320V|LGMN_uc001yaw.2_Missense_Mutation_p.M320V|LGMN_uc010aul.2_Missense_Mutation_p.M201V|LGMN_uc001yax.2_Missense_Mutation_p.M320V|LGMN_uc001yay.2_Missense_Mutation_p.M320V	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	320					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTGGTGTTCATCAGTTTCCTT	0.562												
EML1	2009	broad.mit.edu	37	14	100375723	100375723	+	Silent	SNP	G	G	T	rs78864584	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:100375723G>T	uc001ygs.2	+	11	1215	c.1146G>T	c.(1144-1146)ACG>ACT	p.T382T	EML1_uc010avt.1_Silent_p.T369T|EML1_uc010tww.1_Silent_p.T370T|EML1_uc001ygq.2_Silent_p.T401T|EML1_uc001ygr.2_Silent_p.T401T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	382	WD 3.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCACCCCACGGACACCAACA	0.433												
RCOR1	23186	broad.mit.edu	37	14	103180949	103180949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:103180949C>T	uc001ymb.2	+	8	1039	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	347	Potential.|Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						TTCAGTCAAACGACAGGTACT	0.403												
TDRD9	122402	broad.mit.edu	37	14	104481129	104481129	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:104481129G>A	uc001yom.3	+	21	2204	c.2174G>A	c.(2173-2175)CGA>CAA	p.R725Q	TDRD9_uc001yon.3_Missense_Mutation_p.R463Q	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	725					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GATTCTCGGCGACCTGTCATG	0.368												
ZNF770	54989	broad.mit.edu	37	15	35273959	35273959	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:35273959T>C	uc001ziw.2	-	3	1988	c.1677A>G	c.(1675-1677)CAA>CAG	p.Q559Q		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTGACATTGTTGGGAAGCAT	0.388												
FSIP1	161835	broad.mit.edu	37	15	40005706	40005706	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40005706C>T	uc001zki.2	-	10	1345	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	376										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATGCAGATCGCGTTGCTCTTT	0.313												
PAK6	56924	broad.mit.edu	37	15	40565133	40565133	+	Missense_Mutation	SNP	G	G	A	rs34445577		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40565133G>A	uc010bbl.2	+	7	1863	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	PAK6_uc010bbm.2_Missense_Mutation_p.E475K|PAK6_uc001zky.3_Missense_Mutation_p.E475K|PAK6_uc010bbn.2_Missense_Mutation_p.E475K|PAK6_uc001zlb.2_Missense_Mutation_p.E475K	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	475	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCTGGTGGGCGAGGAGCTGTG	0.632												
VPS18	57617	broad.mit.edu	37	15	41192775	41192775	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:41192775G>A	uc001zne.2	+	4	2098	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	587					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCGTGCTCGCCCGCCACCG	0.597												
MGA	23269	broad.mit.edu	37	15	41961400	41961400	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:41961400G>A	uc001zog.1	+	2	399	c.308G>A	c.(307-309)CGC>CAC	p.R103H	MGA_uc010ucy.1_Missense_Mutation_p.R103H|MGA_uc010ucz.1_Missense_Mutation_p.R103H	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	103	T-box.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAAGGAAGACGCATGTTTCCT	0.383												
MYO1E	4643	broad.mit.edu	37	15	59553620	59553620	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:59553620G>A	uc002aga.2	-	3	608	c.236C>T	c.(235-237)GCG>GTG	p.A79V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	79	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GTAACTTACCGCTCCTTGGTA	0.348												
VPS13C	54832	broad.mit.edu	37	15	62165561	62165561	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:62165561C>A	uc002agz.2	-	78	10536	c.10462G>T	c.(10462-10464)GGT>TGT	p.G3488C	VPS13C_uc002aha.2_Missense_Mutation_p.G3445C|VPS13C_uc002ahb.1_Missense_Mutation_p.G3488C|VPS13C_uc002ahc.1_Missense_Mutation_p.G3445C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3488					protein localization					ovary(2)	2						GCTGCCAAACCTTTCCCAACA	0.343												
TLN2	83660	broad.mit.edu	37	15	63029196	63029196	+	Missense_Mutation	SNP	G	G	A	rs140997624		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:63029196G>A	uc002alb.3	+	26	3478	c.3478G>A	c.(3478-3480)GTG>ATG	p.V1160M		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1160	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TGCTCGAGACGTGATGGAGGG	0.617												
HCN4	10021	broad.mit.edu	37	15	73615926	73615926	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:73615926C>T	uc002avp.2	-	8	3502	c.2508G>A	c.(2506-2508)GCG>GCA	p.A836A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	836	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CGGAGCCCAGCGCAGAAGGGA	0.672												
CYP1A1	1543	broad.mit.edu	37	15	75013992	75013992	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:75013992C>T	uc002ayp.3	-	3	1014	c.892G>A	c.(892-894)GCC>ACC	p.A298T	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.A34T|CYP1A1_uc010bjx.2_Missense_Mutation_p.A34T|CYP1A1_uc002ayq.3_Missense_Mutation_p.A298T|CYP1A1_uc010bjy.2_Missense_Mutation_p.A298T|CYP1A1_uc010bjz.1_Missense_Mutation_p.A34T	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	298					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGGACATTGGCGTTCTCATCC	0.517									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia			
UBE2Q2	92912	broad.mit.edu	37	15	76161330	76161330	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:76161330A>G	uc002bbg.2	+	4	812	c.426A>G	c.(424-426)GAA>GAG	p.E142E	UBE2Q2_uc002bbh.2_Silent_p.E107E|UBE2Q2_uc010umn.1_Silent_p.E126E|UBE2Q2_uc002bbi.2_Silent_p.E23E	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1	142	Glu-rich.				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						aagaagaggaagaagaagaag	0.289												
LINGO1	84894	broad.mit.edu	37	15	77906539	77906539	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:77906539G>A	uc002bct.1	-	2	1762	c.1710C>T	c.(1708-1710)GGC>GGT	p.G570G	LINGO1_uc002bcu.1_Silent_p.G564G	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	570	Helical; (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						AGAGGACGACGCCCAGGAAAG	0.597												
C15orf58	390637	broad.mit.edu	37	15	90784210	90784210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:90784210C>T	uc002bpc.2	+	4	249	c.70C>T	c.(70-72)CAA>TAA	p.Q24*		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	24					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGGGGCAGGCAAACCATTCC	0.478												
C15orf58	390637	broad.mit.edu	37	15	90784375	90784375	+	Missense_Mutation	SNP	C	C	T	rs143661647		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:90784375C>T	uc002bpc.2	+	4	414	c.235C>T	c.(235-237)CGT>TGT	p.R79C		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	79					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						GTTTCGCTACCGTCTACGGGA	0.602												
CHD2	1106	broad.mit.edu	37	15	93563304	93563304	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:93563304T>C	uc002bsp.2	+	38	5544	c.4969T>C	c.(4969-4971)TGG>CGG	p.W1657R	CHD2_uc002bso.1_Missense_Mutation_p.W1657R	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1657					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAATCCACCATGGGGAAGCGA	0.512												
EME2	197342	broad.mit.edu	37	16	1825647	1825647	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:1825647G>A	uc002cmq.1	+	6	894	c.894G>A	c.(892-894)GTG>GTA	p.V298V	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.V247V	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	254					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						GTCGGCACGTGTGCGCCGTTA	0.642								Direct_reversal_of_damage|Homologous_recombination				
TSC2	7249	broad.mit.edu	37	16	2138301	2138301	+	Missense_Mutation	SNP	G	G	A	rs137854396		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:2138301G>A	uc002con.2	+	41	5340	c.5234G>A	c.(5233-5235)CGC>CAC	p.R1745H	TSC2_uc010bsd.2_Missense_Mutation_p.R1722H|TSC2_uc002coo.2_Missense_Mutation_p.R1678H|TSC2_uc010uvv.1_Missense_Mutation_p.R1642H|TSC2_uc010uvw.1_Missense_Mutation_p.R1630H|TSC2_uc002cop.2_Missense_Mutation_p.R1501H|TSC2_uc002coq.2_Missense_Mutation_p.R520H|TSC2_uc002cor.2_Missense_Mutation_p.R446H	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1745	Rap-GAP.			R->Q: Abolishes GAP activity.	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GCCCGGCTCCGCCACATCAAG	0.662			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TRAF7	84231	broad.mit.edu	37	16	2226331	2226331	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:2226331G>A	uc002cow.2	+	20	2043	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	648	WD 7.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTGTCACCGCGCTGGCTGTGT	0.647												
KREMEN2	79412	broad.mit.edu	37	16	3016424	3016424	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:3016424C>T	uc002csg.2	+	4	765	c.460C>T	c.(460-462)CGC>TGC	p.R154C	KREMEN2_uc010bsw.1_Missense_Mutation_p.R154C|KREMEN2_uc002csh.2_Missense_Mutation_p.R154C|KREMEN2_uc010uwl.1_Missense_Mutation_p.R154C|KREMEN2_uc010bsx.2_Missense_Mutation_p.R154C|KREMEN2_uc002csi.2_Missense_Mutation_p.R154C|PAQR4_uc002csj.3_5'Flank|PAQR4_uc002csk.3_5'Flank|PAQR4_uc002csl.3_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	154	Extracellular (Potential).|WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						GGTGTGCCTACGCTTCTGCCG	0.632												
ZNF205	7755	broad.mit.edu	37	16	3165484	3165484	+	Silent	SNP	G	G	A	rs144841352		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:3165484G>A	uc002cub.2	+	3	321	c.186G>A	c.(184-186)TCG>TCA	p.S62S	MGC3771_uc010btd.2_5'Flank|MGC3771_uc010bte.2_RNA|MGC3771_uc002ctz.3_RNA|ZNF205_uc002cua.2_Silent_p.S62S	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AGGGGGCATCGCAGGAGGATG	0.612												
TNP2	7142	broad.mit.edu	37	16	11362892	11362892	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:11362892A>G	uc002das.2	-	1	269	c.228T>C	c.(226-228)AGT>AGC	p.S76S	C16orf75_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	transition protein 2 (during histone to	76					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0						TTGGTGGTGGACTAGTGTTGG	0.622												
SNX29	92017	broad.mit.edu	37	16	12662446	12662446	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:12662446G>A	uc002dby.3	+	14	1303	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	416					cell communication		phosphatidylinositol binding			ovary(1)	1						GGTCAGCCCCGGGAGACCCGC	0.677												
ACSM5	54988	broad.mit.edu	37	16	20439171	20439171	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:20439171T>C	uc002dhe.2	+	7	1130	c.983T>C	c.(982-984)GTG>GCG	p.V328A		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						CGGCTGCTTGTGCAGGAGGAT	0.468												
RBBP6	5930	broad.mit.edu	37	16	24567183	24567183	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:24567183C>T	uc002dmh.2	+	6	1519	c.479C>T	c.(478-480)ACG>ATG	p.T160M	RBBP6_uc010vcb.1_Missense_Mutation_p.T27M|RBBP6_uc002dmi.2_Missense_Mutation_p.T160M|RBBP6_uc010bxr.2_Missense_Mutation_p.T160M|RBBP6_uc002dmk.2_Missense_Mutation_p.T27M	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	160	CCHC-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CCATCTTACACGTGTTTCCGT	0.358												
ATP2A1	487	broad.mit.edu	37	16	28914189	28914189	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:28914189C>A	uc002dro.1	+	19	2885	c.2701C>A	c.(2701-2703)CTG>ATG	p.L901M	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.L901M|ATP2A1_uc002drp.1_Missense_Mutation_p.L776M	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	901	Helical; Name=8; (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GACCATGGCCCTGTCCGTGCT	0.617												
PRRT2	112476	broad.mit.edu	37	16	29825697	29825697	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:29825697G>A	uc002due.3	+	3	1224	c.923G>A	c.(922-924)CGT>CAT	p.R308H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.R308H|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	308	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0						GGGGCCCAGCGTCTGGGCCGG	0.667												
ZNF48	197407	broad.mit.edu	37	16	30410095	30410095	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30410095A>G	uc002dya.1	+	2	1583	c.1524A>G	c.(1522-1524)CCA>CCG	p.P508P	ZNF48_uc002dxz.1_Silent_p.P385P	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	508	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGCCCGGCCACCACCACCAT	0.657												
ZNF629	23361	broad.mit.edu	37	16	30793647	30793647	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30793647C>T	uc002dzs.1	-	3	2210	c.2002G>A	c.(2002-2004)GGA>AGA	p.G668R		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	668	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AAGCTCTCTCCGCAGTGGGAG	0.612												
ITGAX	3687	broad.mit.edu	37	16	31382513	31382513	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:31382513C>T	uc002ebu.1	+	15	1886	c.1819C>T	c.(1819-1821)CGG>TGG	p.R607W	ITGAX_uc002ebt.2_Missense_Mutation_p.R607W|ITGAX_uc010vfk.1_Missense_Mutation_p.R257W	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	607	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGTGGGGGCCCGGGGCCAGGT	0.662												
CETP	1071	broad.mit.edu	37	16	56995902	56995902	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:56995902C>T	uc002eki.2	+	1	68	c.11C>T	c.(10-12)GCC>GTC	p.A4V	CETP_uc002ekj.2_Missense_Mutation_p.A4V	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	4					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						ATGCTGGCTGCCACAGTCCTG	0.637												
CES2	8824	broad.mit.edu	37	16	66975082	66975082	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:66975082G>A	uc002eqr.2	+	6	2064	c.1064G>A	c.(1063-1065)TGC>TAC	p.C355Y	CES2_uc002eqq.2_Missense_Mutation_p.C355Y|CES2_uc002eqs.2_Missense_Mutation_p.C198Y	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	291					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTGGTGGGCTGCCTGCGGGGC	0.562												
C16orf70	80262	broad.mit.edu	37	16	67165190	67165190	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:67165190T>C	uc002erc.2	+	5	317	c.233T>C	c.(232-234)GTG>GCG	p.V78A	C16orf70_uc002erd.2_Missense_Mutation_p.V78A|C16orf70_uc002ere.1_Missense_Mutation_p.V56A	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	78										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTTTTTTAGGTGATCGAAGTA	0.284												
NFAT5	10725	broad.mit.edu	37	16	69727814	69727814	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:69727814G>A	uc002exm.1	+	12	5240	c.4032G>A	c.(4030-4032)TCG>TCA	p.S1344S	NFAT5_uc002exi.2_Silent_p.S1268S|NFAT5_uc002exj.1_Silent_p.S1268S|NFAT5_uc002exk.1_Silent_p.S1268S|NFAT5_uc002exl.1_Silent_p.S1362S|NFAT5_uc002exn.1_Silent_p.S1361S|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1344					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTACCCAGTCGGAATCATCAC	0.473												
FUK	197258	broad.mit.edu	37	16	70497629	70497629	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:70497629C>T	uc002eyy.2	+	3	244	c.186C>T	c.(184-186)AAC>AAT	p.N62N	FUK_uc010vmb.1_Silent_p.N62N|FUK_uc010cft.2_Silent_p.N62N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	62						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCACCCTCAACGCCCTGCTGG	0.657												
ZNF19	7567	broad.mit.edu	37	16	71509154	71509154	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:71509154C>T	uc010cgc.1	-	6	1802	c.1296G>A	c.(1294-1296)GAG>GAA	p.E432E	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.E420E|ZNF19_uc002fal.1_Silent_p.E420E|ZNF19_uc002fam.1_Silent_p.E432E	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	432	C2H2-type 10; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGTAGACATGCTCAAGGTGAC	0.289												
BCAR1	9564	broad.mit.edu	37	16	75263597	75263597	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:75263597G>A	uc002fdv.2	-	7	2548	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C	BCAR1_uc002fdt.2_Missense_Mutation_p.R262C|BCAR1_uc002fdu.2_Missense_Mutation_p.R599C|BCAR1_uc010cgu.2_Missense_Mutation_p.R798C|BCAR1_uc010vna.1_Missense_Mutation_p.R807C|BCAR1_uc010vnb.1_Missense_Mutation_p.R855C|BCAR1_uc002fdw.2_Missense_Mutation_p.R809C|BCAR1_uc010vnc.1_Missense_Mutation_p.R661C|BCAR1_uc010vnd.1_Missense_Mutation_p.R827C|BCAR1_uc002fdx.2_Missense_Mutation_p.R827C	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	809					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCTGGCTGCGCACGTCAGCA	0.632												
KARS	3735	broad.mit.edu	37	16	75665396	75665396	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:75665396G>A	uc002feq.2	-	9	1218	c.1170C>T	c.(1168-1170)CCC>CCT	p.P390P	KARS_uc002fer.2_Silent_p.P418P|KARS_uc002fes.2_Silent_p.P234P	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	390					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	TTCGCCGGAAGGGTGGGGTGA	0.517												
PLCG2	5336	broad.mit.edu	37	16	81962215	81962215	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:81962215A>C	uc002fgt.2	+	24	2719	c.2567A>C	c.(2566-2568)AAT>ACT	p.N856T		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	856					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TTGGACCTCAATACCTATAAC	0.478												
FOXC2	2303	broad.mit.edu	37	16	86601058	86601058	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:86601058C>T	uc002fjq.2	+	1	202	c.117C>T	c.(115-117)GGC>GGT	p.G39G		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	39					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding				0						GCCCCATGGGCGTCTATTCCG	0.697									Late-onset_Hereditary_Lymphedema			
CDK10	8558	broad.mit.edu	37	16	89761420	89761420	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:89761420C>G	uc010cio.2	+	11	917	c.874C>G	c.(874-876)CTG>GTG	p.L292V	CDK10_uc002fod.2_Missense_Mutation_p.L221V|CDK10_uc002foe.2_Missense_Mutation_p.L221V|CDK10_uc002fof.2_Missense_Mutation_p.L221V|CDK10_uc002fog.3_Missense_Mutation_p.L221V|CDK10_uc002foh.3_Missense_Mutation_p.L221V|CDK10_uc002foi.2_RNA	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	292	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GTTCCCATGGCTGTCGGAGGC	0.562												
TUBB3	10381	broad.mit.edu	37	16	89986083	89986083	+	Silent	SNP	C	C	T	rs150785165	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:89986083C>T	uc002fpf.2	+	1	825	c.417C>T	c.(415-417)GCC>GCT	p.A139A	MC1R_uc002fpe.3_Silent_p.A139A|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCGCCATCGCCGTGGACCGCT	0.657												
NXN	64359	broad.mit.edu	37	17	729235	729235	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:729235C>T	uc002fsa.2	-	2	536	c.444G>A	c.(442-444)AGG>AGA	p.R148R	NXN_uc002fsb.1_Silent_p.R35R|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Silent_p.R40R	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	148					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCAGCCCGTTCCTGCACACAA	0.502												
ZMYND15	84225	broad.mit.edu	37	17	4647738	4647738	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:4647738C>T	uc002fyt.2	+	9	1581	c.1542C>T	c.(1540-1542)GAC>GAT	p.D514D	ZMYND15_uc002fyv.2_Silent_p.D553D|ZMYND15_uc002fyu.2_Silent_p.D553D	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	514							zinc ion binding				0						CCGAAAGCGACGAGCAGCATT	0.602												
CHRNB1	1140	broad.mit.edu	37	17	7357799	7357799	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:7357799G>A	uc002ghb.2	+	8	1045	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	CHRNB1_uc010vty.1_Missense_Mutation_p.R263H|CHRNB1_uc010vtz.1_Missense_Mutation_p.R169H	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	335	Cytoplasmic (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				CTGCACCACCGCTCACCCCAC	0.483												
CNTROB	116840	broad.mit.edu	37	17	7847956	7847956	+	Silent	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:7847956A>C	uc002gjq.2	+	13	2653	c.1734A>C	c.(1732-1734)CCA>CCC	p.P578P	CNTROB_uc002gjp.2_Silent_p.P578P|CNTROB_uc002gjr.2_Silent_p.P480P	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	578	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CCAACCCTCCAGTACGCCTTA	0.433												
MYH4	4622	broad.mit.edu	37	17	10358320	10358320	+	Silent	SNP	G	G	A	rs111234155		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:10358320G>A	uc002gmn.2	-	21	2484	c.2373C>T	c.(2371-2373)CGC>CGT	p.R791R	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	791	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGGCTTGAGTGCGCGTGATGA	0.463												
DNAH9	1770	broad.mit.edu	37	17	11540071	11540071	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:11540071A>G	uc002gne.2	+	9	1824	c.1756A>G	c.(1756-1758)AGT>GGT	p.S586G		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	586	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATGATCTACAGTCAGCACGT	0.458												
DNAH9	1770	broad.mit.edu	37	17	11757429	11757429	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:11757429G>A	uc002gne.2	+	50	9685	c.9617G>A	c.(9616-9618)CGG>CAG	p.R3206Q	DNAH9_uc010coo.2_Missense_Mutation_p.R2500Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3206	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCAAGGACCGGAGCTGGAAG	0.547												
ZNF287	57336	broad.mit.edu	37	17	16455518	16455518	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:16455518T>C	uc002gqi.2	-	6	2391	c.1938A>G	c.(1936-1938)AAA>AAG	p.K646K		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	639					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTAAAGGGTTTTTCTCCAT	0.388												
MYO15A	51168	broad.mit.edu	37	17	18022483	18022483	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:18022483C>T	uc010vxh.1	+	2	707	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCGGCCGCGCGCCCGGTCAC	0.642												
FAM83G	644815	broad.mit.edu	37	17	18881958	18881958	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:18881958C>T	uc002guw.2	-	5	1188	c.1021G>A	c.(1021-1023)GCC>ACC	p.A341T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	341										ovary(1)|central_nervous_system(1)	2						AGCTTCTTGGCCACAGTGCCC	0.602												
ALDH3A1	218	broad.mit.edu	37	17	19646611	19646611	+	Missense_Mutation	SNP	C	C	T	rs140767140	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:19646611C>T	uc010cqu.2	-	2	658	c.328G>A	c.(328-330)GTC>ATC	p.V110I	ALDH3A1_uc010vzd.1_Missense_Mutation_p.V110I|ALDH3A1_uc002gwj.2_Missense_Mutation_p.V110I|ALDH3A1_uc010cqv.2_Missense_Mutation_p.V110I|ALDH3A1_uc002gwk.2_Silent_p.S26S|ALDH3A1_uc002gwl.1_Missense_Mutation_p.V37I	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	110					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTGCCAATGACGAGGACCACG	0.647												
CYTSB	92521	broad.mit.edu	37	17	20108104	20108104	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:20108104C>T	uc002gwq.2	+	4	887	c.742C>T	c.(742-744)CGG>TGG	p.R248W	CYTSB_uc010cqx.2_Missense_Mutation_p.R248W|CYTSB_uc002gwr.2_Missense_Mutation_p.R248W|CYTSB_uc002gws.2_Missense_Mutation_p.R248W|CYTSB_uc002gwv.2_Missense_Mutation_p.R167W|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R24W|CYTSB_uc002gwt.2_Missense_Mutation_p.R167W|CYTSB_uc002gwu.2_Missense_Mutation_p.R167W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	248						nucleus					0						GGAAGAAAACCGGGTCCTGAA	0.483												
PROCA1	147011	broad.mit.edu	37	17	27031396	27031396	+	Silent	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:27031396G>T	uc002hcb.3	-	4	494	c.291C>A	c.(289-291)TCC>TCA	p.S97S	PROCA1_uc010crv.2_Silent_p.S23S|PROCA1_uc002hca.1_Silent_p.S95S	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	123					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					CGATGACATGGGAGCAGGTTG	0.637												
SSH2	85464	broad.mit.edu	37	17	27994186	27994186	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:27994186T>C	uc002heo.1	-	9	784	c.784A>G	c.(784-786)ATG>GTG	p.M262V	SSH2_uc010wbh.1_Missense_Mutation_p.M289V|SSH2_uc002hep.1_Missense_Mutation_p.M262V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	262					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TTCTGCATCATGATCTCCCTT	0.388												
AMAC1	146861	broad.mit.edu	37	17	33520940	33520940	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:33520940G>A	uc002hjd.2	-	1	473	c.387C>T	c.(385-387)AAC>AAT	p.N129N		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	129	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		CAGTGGCAGCGTTGCCAGCGG	0.597												
ACACA	31	broad.mit.edu	37	17	35538197	35538197	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:35538197T>C	uc002hnm.2	-	40	4957	c.4766A>G	c.(4765-4767)CAG>CGG	p.Q1589R	ACACA_uc002hnk.2_Missense_Mutation_p.Q1511R|ACACA_uc002hnl.2_Missense_Mutation_p.Q1531R|ACACA_uc002hnn.2_Missense_Mutation_p.Q1589R|ACACA_uc002hno.2_Missense_Mutation_p.Q1626R|ACACA_uc010cuy.2_Missense_Mutation_p.Q283R	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1589					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGATTGTGCCTGGAACCTCTT	0.443												
PIP4K2B	8396	broad.mit.edu	37	17	36927291	36927291	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:36927291C>T	uc002hqs.2	-	8	1523	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	348	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ATGGCATAGACGTCAACAGAG	0.552												
KRTAP3-2	83897	broad.mit.edu	37	17	39155890	39155890	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:39155890C>T	uc002hvs.2	-	1	249	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	keratin associated protein 3.2	72						keratin filament	structural molecule activity				0		Breast(137;0.00043)				CCGGAGTTGGCTGGCAGGAGT	0.607												
KRT13	3860	broad.mit.edu	37	17	39659000	39659000	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:39659000A>G	uc002hwu.1	-	5	1025	c.962T>C	c.(961-963)ATC>ACC	p.I321T	KRT13_uc002hwv.1_Missense_Mutation_p.I321T|KRT13_uc002hww.2_Missense_Mutation_p.I214T|KRT13_uc010wfr.1_Missense_Mutation_p.I214T|KRT13_uc010cxo.2_Missense_Mutation_p.I321T|KRT13_uc002hwx.1_Missense_Mutation_p.I309T	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	321	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GAGCTCCGTGATCTCTGTCTT	0.577												
CNP	1267	broad.mit.edu	37	17	40120334	40120334	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:40120334C>T	uc002hyl.1	+	2	396	c.252C>T	c.(250-252)GAC>GAT	p.D84D	CNP_uc002hyk.1_Silent_p.D84D|CNP_uc010wfz.1_Silent_p.D84D|CNP_uc002hym.1_Silent_p.D64D|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632												
PLEKHH3	79990	broad.mit.edu	37	17	40822661	40822661	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:40822661C>T	uc002iau.2	-	10	1951	c.1484G>A	c.(1483-1485)CGT>CAT	p.R495H	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.R492H	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	495	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCGTGAAGACGCAGACATAG	0.632												
BRCA1	672	broad.mit.edu	37	17	41245760	41245760	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:41245760G>A	uc002icq.2	-	10	2020	c.1788C>T	c.(1786-1788)CTC>CTT	p.L596L	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L525L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L549L|BRCA1_uc002ict.2_Silent_p.L596L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L596L|BRCA1_uc002ide.1_Silent_p.L427L|BRCA1_uc010cyy.1_Silent_p.L596L|BRCA1_uc010whs.1_Silent_p.L596L|BRCA1_uc010cyz.2_Silent_p.L549L|BRCA1_uc010cza.2_Silent_p.L570L|BRCA1_uc010wht.1_Silent_p.L300L	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	596					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATTTAATTCGAGTTCCATAT	0.368			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
GOSR2	9570	broad.mit.edu	37	17	45016106	45016106	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:45016106G>A	uc002ila.2	+	6	692	c.619G>A	c.(619-621)GTG>ATG	p.V207M	GOSR2_uc010wkh.1_Intron|GOSR2_uc002ikz.2_Intron	NM_004287	NP_004278	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform A	207	Helical; Anchor for type IV membrane protein; (Potential).				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(9;0.102)			CATGTTCCTCGTGGTGCAGTA	0.552												
OSBPL7	114881	broad.mit.edu	37	17	45891131	45891131	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:45891131C>T	uc002ilx.1	-	15	1624	c.1421G>A	c.(1420-1422)GGG>GAG	p.G474E	OSBPL7_uc002ilw.1_Missense_Mutation_p.G36E	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	474					lipid transport		lipid binding				0						CACGTCAGCCCCAGGCCCGCT	0.657												
GIP	2695	broad.mit.edu	37	17	47041735	47041735	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:47041735A>G	uc002iol.1	-	3	292	c.194T>C	c.(193-195)ATG>ACG	p.M65T		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	65					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1						AATCTTGTCCATGGCAATACT	0.542												
IGF2BP1	10642	broad.mit.edu	37	17	47115628	47115628	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:47115628G>A	uc002iom.2	+	6	834	c.500G>A	c.(499-501)CGC>CAC	p.R167H	IGF2BP1_uc010dbj.2_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						GAGAATGGGCGCCGAGGGGGC	0.637												
C17orf71	55181	broad.mit.edu	37	17	57287463	57287463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:57287463G>A	uc002ixi.2	+	1	93	c.51G>A	c.(49-51)TGG>TGA	p.W17*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	17					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CATCAGCCTGGATGGGCTCTG	0.622												
GDPD1	284161	broad.mit.edu	37	17	57334502	57334502	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:57334502A>C	uc002ixk.1	+	5	524	c.387A>C	c.(385-387)AAA>AAC	p.K129N	GDPD1_uc002ixj.2_Missense_Mutation_p.K129N	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	129	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTGAAGGAAAAGATAACCGAA	0.279												
INTS2	57508	broad.mit.edu	37	17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:59989372G>A	uc002izn.2	-	6	809	c.733C>T	c.(733-735)CGC>TGC	p.R245C	INTS2_uc002izm.2_Missense_Mutation_p.R237C	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	245					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TCTGTCCTGCGCCTTCCTCCA	0.428												
TLK2	11011	broad.mit.edu	37	17	60689890	60689890	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:60689890A>G	uc010ddp.2	+	23	2551	c.2283A>G	c.(2281-2283)TCA>TCG	p.S761S	TLK2_uc002izx.3_Silent_p.S587S|TLK2_uc002izz.3_Silent_p.S739S|TLK2_uc002jaa.3_Silent_p.S707S|TLK2_uc010wpd.1_Silent_p.S707S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	761					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						CTATTGCATCAACCTCTGGGG	0.507												
CACNG1	786	broad.mit.edu	37	17	65041002	65041002	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:65041002G>A	uc002jfu.2	+	1	297	c.226G>A	c.(226-228)GGG>AGG	p.G76R		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	76					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CACCCTGCCCGGGGGTAACGT	0.642												
SLC39A11	201266	broad.mit.edu	37	17	70645064	70645064	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:70645064G>A	uc002jjb.2	-	9	943	c.828C>T	c.(826-828)GCC>GCT	p.A276A	SLC39A11_uc002jja.2_Silent_p.A269A	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	276	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAAAGACCCCGGCCAGGGGCT	0.627												
C17orf80	55028	broad.mit.edu	37	17	71232288	71232288	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:71232288G>A	uc002jjm.3	+	3	861	c.667G>A	c.(667-669)GTG>ATG	p.V223M	C17orf80_uc010wqu.1_Missense_Mutation_p.V223M|C17orf80_uc010dfj.2_Missense_Mutation_p.V223M|C17orf80_uc002jjk.1_Missense_Mutation_p.V223M|C17orf80_uc002jjl.3_Missense_Mutation_p.V223M	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	223	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ATTACTAGATGTGCCTACTGG	0.383												
CD300LB	124599	broad.mit.edu	37	17	72527553	72527553	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:72527553T>C	uc002jkx.2	-	1	61	c.48A>G	c.(46-48)GCA>GCG	p.A16A	CD300LB_uc010wqz.1_Silent_p.A16A	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	Error:Variant_position_missing_in_A8K4G0_after_alignment						integral to membrane|plasma membrane	receptor activity			ovary(1)	1						AGATCCCAGATGCACTCTGGA	0.547												
SRP68	6730	broad.mit.edu	37	17	74042188	74042188	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:74042188C>T	uc002jqk.1	-	11	1265	c.1230G>A	c.(1228-1230)CAG>CAA	p.Q410Q	SRP68_uc010wsu.1_Silent_p.Q309Q|SRP68_uc002jql.1_Silent_p.Q372Q|SRP68_uc002jqj.1_Silent_p.Q71Q	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	410					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CATCCTCTGGCTGCTGCTGCA	0.562												
LGALS3BP	3959	broad.mit.edu	37	17	76968444	76968444	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:76968444G>A	uc002jwh.2	-	6	1151	c.972C>T	c.(970-972)GCC>GCT	p.A324A	LGALS3BP_uc002jwi.2_Silent_p.A130A|LGALS3BP_uc010dhr.2_Silent_p.A130A	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	324	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGTCCACGGCCTTCAGTA	0.672												
ENGASE	64772	broad.mit.edu	37	17	77081752	77081752	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:77081752G>A	uc002jwv.2	+	13	1759	c.1751G>A	c.(1750-1752)TGC>TAC	p.C584Y	ENGASE_uc002jww.2_Missense_Mutation_p.C289Y	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	584						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CTCCTCGTTTGCTTCTCACGG	0.657												
GAA	2548	broad.mit.edu	37	17	78078703	78078703	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:78078703C>T	uc002jxo.2	+	3	500	c.318C>T	c.(316-318)CGC>CGT	p.R106R	GAA_uc002jxp.2_Silent_p.R106R|GAA_uc002jxq.2_Silent_p.R106R	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	106	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCGAGGCCCGCGGCTGTTGCT	0.657												
ACTG1	71	broad.mit.edu	37	17	79478090	79478090	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:79478090T>C	uc002kaj.1	-	4	872	c.847A>G	c.(847-849)ATG>GTG	p.M283V	ACTG1_uc002kah.1_Missense_Mutation_p.M161V|ACTG1_uc002kai.1_Missense_Mutation_p.M240V|ACTG1_uc002kak.1_Missense_Mutation_p.M283V|ACTG1_uc010wun.1_Missense_Mutation_p.M283V|ACTG1_uc002kal.1_Missense_Mutation_p.M283V|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	283					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCACACTTCATGATGGAGTTG	0.562												
DUS1L	64118	broad.mit.edu	37	17	80019844	80019844	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:80019844C>T	uc002kdq.2	-	5	945	c.526G>A	c.(526-528)GGA>AGA	p.G176R	DUS1L_uc002kdp.2_Missense_Mutation_p.G45R|DUS1L_uc002kdr.2_Missense_Mutation_p.G176R|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.G159R	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	176					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TTGGTGCGTCCGTGCACCGTC	0.443												
FOXK2	3607	broad.mit.edu	37	17	80477947	80477947	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:80477947G>A	uc002kfn.2	+	1	354	c.183G>A	c.(181-183)TCG>TCA	p.S61S	FOXK2_uc002kfm.1_Silent_p.S61S|FOXK2_uc010diu.2_Silent_p.S61S	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	61	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCAACTCGTCGCAGGGCTCGG	0.557												
PTPRM	5797	broad.mit.edu	37	18	7888203	7888203	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:7888203T>G	uc002knn.3	+	3	799	c.296T>G	c.(295-297)TTT>TGT	p.F99C	PTPRM_uc010dkv.2_Missense_Mutation_p.F99C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	99	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TGCATCGATTTTCACTATTTT	0.483												
PTPRM	5797	broad.mit.edu	37	18	8113535	8113535	+	Silent	SNP	G	G	A	rs151258957		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:8113535G>A	uc002knn.3	+	12	2411	c.1908G>A	c.(1906-1908)ACG>ACA	p.T636T	PTPRM_uc010dkv.2_Silent_p.T636T|PTPRM_uc010wzl.1_Silent_p.T423T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTAAAAAGACGACAGAAATCT	0.393												
CDH2	1000	broad.mit.edu	37	18	25573538	25573538	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:25573538G>T	uc002kwg.2	-	8	1543	c.1084C>A	c.(1084-1086)CTT>ATT	p.L362I	CDH2_uc010xbn.1_Missense_Mutation_p.L331I	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	362	Extracellular (Potential).|Cadherin 2.				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						GTGTTTGAAAGGCCATATGTG	0.413												
DSG1	1828	broad.mit.edu	37	18	28935124	28935124	+	Missense_Mutation	SNP	G	G	A	rs145472309		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:28935124G>A	uc002kwp.2	+	15	3177	c.2965G>A	c.(2965-2967)GGT>AGT	p.G989S	DSG1_uc010xbp.1_Missense_Mutation_p.G348S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	989	Cytoplasmic (Potential).|Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTGGGAGCGGTGCCCTGAG	0.597												
KLHL14	57565	broad.mit.edu	37	18	30260195	30260195	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:30260195C>T	uc002kxm.1	-	7	1913	c.1525G>A	c.(1525-1527)GCA>ACA	p.A509T	KLHL14_uc010dmd.1_Missense_Mutation_p.A58T	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	509	Kelch 4.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GTGTGAATTGCACGTTTTGTG	0.378												
KLHL14	57565	broad.mit.edu	37	18	30349901	30349901	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:30349901G>A	uc002kxm.1	-	2	1042	c.654C>T	c.(652-654)TTC>TTT	p.F218F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	218	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCATCTCCTCGAAGTTGAGCA	0.642												
FHOD3	80206	broad.mit.edu	37	18	34298165	34298165	+	Silent	SNP	G	G	A	rs149550373		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:34298165G>A	uc002kzt.1	+	15	2425	c.2328G>A	c.(2326-2328)GCG>GCA	p.A776A	FHOD3_uc002kzs.1_Silent_p.A793A|FHOD3_uc010dmz.1_Silent_p.A508A|FHOD3_uc010dna.1_Silent_p.A96A	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	776					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAACAGCGCCGGTGCAGC	0.537												
SMAD2	4087	broad.mit.edu	37	18	45374871	45374871	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45374871C>T	uc002lcy.2	-	8	1220	c.972G>A	c.(970-972)ACG>ACA	p.T324T	SMAD2_uc002lcz.2_Silent_p.T324T|SMAD2_uc010xdc.1_Silent_p.T294T|SMAD2_uc010xdd.1_Silent_p.T294T	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	324	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						TCATTTCTACCGTGGCATTTC	0.398												
SMAD2	4087	broad.mit.edu	37	18	45423026	45423026	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45423026A>G	uc002lcy.2	-	2	350	c.102T>C	c.(100-102)AAT>AAC	p.N34N	SMAD2_uc002lcz.2_Silent_p.N34N|SMAD2_uc010xdc.1_Silent_p.N34N|SMAD2_uc010xdd.1_Silent_p.N34N	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	34	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						CTTCCTGCCCATTCTGCTCTC	0.512												
WDR7	23335	broad.mit.edu	37	18	54424291	54424291	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:54424291C>T	uc002lgk.1	+	15	2678	c.2467C>T	c.(2467-2469)CGC>TGC	p.R823C	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R823C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	823										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGCCTGGATCGCCTTGGAAT	0.473												
CTDP1	9150	broad.mit.edu	37	18	77477994	77477994	+	Missense_Mutation	SNP	C	C	T	rs148053048		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:77477994C>T	uc002lnh.1	+	10	2542	c.2395C>T	c.(2395-2397)CGC>TGC	p.R799C	CTDP1_uc002lni.1_Missense_Mutation_p.R799C|CTDP1_uc010drd.1_Missense_Mutation_p.R799C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	799					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCTACCCATCCGCCAGGAGCC	0.667												
ADNP2	22850	broad.mit.edu	37	18	77896267	77896267	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:77896267C>T	uc002lnw.2	+	4	3426	c.2971C>T	c.(2971-2973)CGG>TGG	p.R991W		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	991					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGAAGACCAGCGGCATGGGGA	0.507												
ZNF556	80032	broad.mit.edu	37	19	2877696	2877696	+	Missense_Mutation	SNP	G	G	A	rs146297141		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:2877696G>A	uc002lwp.1	+	4	827	c.740G>A	c.(739-741)CGC>CAC	p.R247H	ZNF556_uc002lwq.2_Missense_Mutation_p.R246H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	247	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCCTTTCGCGCACATGTG	0.512												
TLE2	7089	broad.mit.edu	37	19	3005804	3005804	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:3005804C>T	uc002lww.2	-	16	1926	c.1663G>A	c.(1663-1665)GTC>ATC	p.V555I	TLE2_uc010xhb.1_Missense_Mutation_p.V222I|TLE2_uc010dth.2_Missense_Mutation_p.V556I|TLE2_uc010xhc.1_Missense_Mutation_p.V433I|TLE2_uc010dti.2_Missense_Mutation_p.V569I	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	555	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGCTGACGGCCAGGGCG	0.642												
PIP5K1C	23396	broad.mit.edu	37	19	3644089	3644089	+	Silent	SNP	G	G	A	rs147371549		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:3644089G>A	uc002lyj.1	-	12	1563	c.1506C>T	c.(1504-1506)GAC>GAT	p.D502D	PIP5K1C_uc010xhq.1_Silent_p.D502D|PIP5K1C_uc010xhr.1_Silent_p.D502D	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	502					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCACCTTCGTCCTCCAGCG	0.716												
UBXN6	80700	broad.mit.edu	37	19	4445559	4445559	+	Missense_Mutation	SNP	G	G	A	rs77077573	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:4445559G>A	uc002man.1	-	11	1358	c.1262C>T	c.(1261-1263)GCG>GTG	p.A421V	UBXN6_uc010dty.1_Missense_Mutation_p.A325V|UBXN6_uc002mam.1_Missense_Mutation_p.A368V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	421						microtubule organizing center|nucleus	protein binding				0						CTCGGCCCCCGCGGCCTTGAT	0.622												
DUS3L	56931	broad.mit.edu	37	19	5785223	5785223	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:5785223C>T	uc002mdc.2	-	13	2041	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.A406A	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	648					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GCTACTTGTACGCGTTGGCCT	0.567												
FUT6	2528	broad.mit.edu	37	19	5832172	5832172	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:5832172A>G	uc002mdf.1	-	4	933	c.407T>C	c.(406-408)ATG>ACG	p.M136T	FUT6_uc002mdg.1_Missense_Mutation_p.M136T|FUT6_uc002mdh.1_Missense_Mutation_p.M136T|FUT6_uc010dul.1_Missense_Mutation_p.M136T	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	136	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						TGGGGACTCCATGCTGAACCA	0.622												
VAV1	7409	broad.mit.edu	37	19	6833624	6833624	+	Silent	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:6833624C>A	uc002mfu.1	+	17	1793	c.1696C>A	c.(1696-1698)CGA>AGA	p.R566R	VAV1_uc010xjh.1_Silent_p.R534R|VAV1_uc010dva.1_Silent_p.R566R|VAV1_uc002mfv.1_Silent_p.R511R	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	566					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TCCATGTGGCCGACATGGGCA	0.577												
ADAMTS10	81794	broad.mit.edu	37	19	8656934	8656934	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:8656934G>A	uc002mkj.1	-	14	1915	c.1641C>T	c.(1639-1641)GAC>GAT	p.D547D	ADAMTS10_uc002mki.1_Missense_Mutation_p.T38M|ADAMTS10_uc002mkk.1_Silent_p.D179D	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	547	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCCAGGCTCCGTCCACACCCT	0.682												
OR7G2	390882	broad.mit.edu	37	19	9213528	9213528	+	Missense_Mutation	SNP	C	C	A	rs150795037	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:9213528C>A	uc010xkk.1	-	1	455	c.455G>T	c.(454-456)AGA>ATA	p.R152I		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GACTGTGTATCTAAGGGGGTG	0.493												
ATG4D	84971	broad.mit.edu	37	19	10662783	10662783	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:10662783G>A	uc002mov.2	+	8	1228	c.1108G>A	c.(1108-1110)GAC>AAC	p.D370N	ATG4D_uc010xlh.1_Missense_Mutation_p.D307N|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.D37N|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	370					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGCCAGGCCGACTTCCCCCT	0.542												
KRI1	65095	broad.mit.edu	37	19	10664749	10664749	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:10664749G>A	uc002moy.1	-	19	2017	c.2008C>T	c.(2008-2010)CTT>TTT	p.L670F	KRI1_uc002mow.1_Missense_Mutation_p.L289F|KRI1_uc002mox.1_Missense_Mutation_p.L666F	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	670										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CATCCACCAAGCATCACAGTG	0.637												
CARM1	10498	broad.mit.edu	37	19	11032110	11032110	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11032110A>G	uc002mpz.2	+	15	1801	c.1675A>G	c.(1675-1677)ATT>GTT	p.I559V	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Intron	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	559	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GAGCACGGGGATTGTCCAAGG	0.657												
SMARCA4	6597	broad.mit.edu	37	19	11129651	11129651	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11129651G>A	uc002mqf.3	+	17	2741	c.2457G>A	c.(2455-2457)GCG>GCA	p.A819A	SMARCA4_uc010dxp.2_Silent_p.A819A|SMARCA4_uc010dxo.2_Silent_p.A819A|SMARCA4_uc002mqg.1_Silent_p.A819A|SMARCA4_uc010dxq.2_Silent_p.A819A|SMARCA4_uc010dxr.2_Silent_p.A819A|SMARCA4_uc002mqj.3_Silent_p.A819A|SMARCA4_uc010dxs.2_Silent_p.A819A|SMARCA4_uc010dxt.1_Silent_p.A39A|SMARCA4_uc002mqh.3_5'Flank|SMARCA4_uc002mqi.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	819	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAACTGGGCGTACGAGTTTG	0.552			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
PRKCSH	5589	broad.mit.edu	37	19	11557919	11557919	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11557919G>A	uc002mrt.2	+	10	1129	c.793G>A	c.(793-795)GCC>ACC	p.A265T	PRKCSH_uc002mru.2_Missense_Mutation_p.A265T|PRKCSH_uc010xlz.1_Missense_Mutation_p.A265T|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.A265T|PRKCSH_uc010dyb.2_Missense_Mutation_p.A265T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	265	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						ACAGACAGACGCCACCTCTTT	0.642											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZSWIM4	65249	broad.mit.edu	37	19	13930229	13930229	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:13930229C>T	uc002mxh.1	+	9	1821	c.1632C>T	c.(1630-1632)ACC>ACT	p.T544T	ZSWIM4_uc010xng.1_Silent_p.T467T	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	544							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCATGCACACCTGTGCCCGCT	0.647												
RFX1	5989	broad.mit.edu	37	19	14088816	14088816	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:14088816G>A	uc002mxv.2	-	8	1189	c.917C>T	c.(916-918)ACG>ATG	p.T306M	RFX1_uc010dzi.2_Missense_Mutation_p.T306M	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	306					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGCACTGGCCGTGTAGCTGGC	0.657												
CYP4F2	8529	broad.mit.edu	37	19	15997110	15997110	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:15997110G>A	uc002nbs.1	-	8	977	c.927C>T	c.(925-927)GAC>GAT	p.D309D	CYP4F2_uc010xot.1_Silent_p.D160D|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	309					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						ACTTCTTCCCGTCTTCATCCT	0.532												
AP1M1	8907	broad.mit.edu	37	19	16319980	16319980	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:16319980A>G	uc002ndu.2	+	5	711	c.538A>G	c.(538-540)AAC>GAC	p.N180D	AP1M1_uc002ndv.2_Missense_Mutation_p.N180D|AP1M1_uc010xpd.1_Missense_Mutation_p.N180D	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	180	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(3)|breast(1)	4						CGAGTCTGTCAACCTCTTGGT	0.512												
ARMC6	93436	broad.mit.edu	37	19	19162758	19162758	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:19162758C>T	uc002nld.2	+	5	955	c.607C>T	c.(607-609)CGT>TGT	p.R203C	ARMC6_uc002nlc.2_Missense_Mutation_p.R178C|ARMC6_uc010xql.1_Missense_Mutation_p.R110C|ARMC6_uc002nle.2_Missense_Mutation_p.R178C|ARMC6_uc010xqm.1_Missense_Mutation_p.R203C	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	203							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCGCTGTGTGCGTCACGCTTG	0.607												
CD22	933	broad.mit.edu	37	19	35823533	35823533	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:35823533G>A	uc010edt.2	+	3	195	c.118G>A	c.(118-120)GTC>ATC	p.V40I	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.V40I|CD22_uc010edv.2_Missense_Mutation_p.V40I|CD22_uc002nzb.3_Missense_Mutation_p.V40I	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	40	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.V40V(1)		ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGGGGCCTGCGTCTGGATCCC	0.502												
MLL4	9757	broad.mit.edu	37	19	36229428	36229428	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36229428C>T	uc010eei.2	+	38	8118	c.8118C>T	c.(8116-8118)GGC>GGT	p.G2706G		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2706	Post-SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAACTGTGGCGCCAAGCGCT	0.637												
PRODH2	58510	broad.mit.edu	37	19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36303061G>A	uc002obx.1	-	4	731	c.713C>T	c.(712-714)ACG>ATG	p.T238M		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	238					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687												
RYR1	6261	broad.mit.edu	37	19	39052022	39052022	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39052022C>T	uc002oit.2	+	90	12682	c.12552C>T	c.(12550-12552)GGC>GGT	p.G4184G	RYR1_uc002oiu.2_Silent_p.G4179G|RYR1_uc002oiv.1_Silent_p.G1093G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4184					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATCATGGGCGCGTCACGCC	0.642												
PAPL	390928	broad.mit.edu	37	19	39597685	39597685	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39597685C>T	uc002oki.2	+	12	1486	c.1212C>T	c.(1210-1212)AAC>AAT	p.N404N	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	404						extracellular region	acid phosphatase activity|metal ion binding				0						ACATCCTCAACGGGACCCACA	0.627												
SUPT5H	6829	broad.mit.edu	37	19	39962069	39962069	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39962069G>A	uc002olo.3	+	19	1929	c.1750G>A	c.(1750-1752)GCT>ACT	p.A584T	SUPT5H_uc002olp.3_Missense_Mutation_p.A584T|SUPT5H_uc002olq.3_Missense_Mutation_p.A580T|SUPT5H_uc002oln.3_Missense_Mutation_p.A584T|SUPT5H_uc002olr.3_Missense_Mutation_p.A584T|SUPT5H_uc002ols.1_Missense_Mutation_p.A207T|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	584					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACCGCTTTGCTGTGGCCTT	0.532												
PLD3	23646	broad.mit.edu	37	19	40883977	40883977	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:40883977G>A	uc002onm.3	+	13	1768	c.1370G>A	c.(1369-1371)CGG>CAG	p.R457Q	PLD3_uc002onj.3_Missense_Mutation_p.R457Q|PLD3_uc002onk.3_Missense_Mutation_p.R457Q|PLD3_uc002onl.3_Missense_Mutation_p.R457Q|PLD3_uc002onn.2_Missense_Mutation_p.R457Q	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	457	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGCGGCCTGCGGAGCCAGCTG	0.632												
PSG6	5675	broad.mit.edu	37	19	43411907	43411907	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:43411907G>A	uc002ovj.1	-	4	858	c.806C>T	c.(805-807)ACC>ATC	p.T269I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.T276I|PSG6_uc002ovi.2_Missense_Mutation_p.T270I|PSG6_uc010xwk.1_Missense_Mutation_p.T109I|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.T59I|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.T269I	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	269	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				CCAAATGTAGGTGTAGTTCCG	0.493												
ZNF235	9310	broad.mit.edu	37	19	44792273	44792273	+	Missense_Mutation	SNP	G	G	A	rs142725667		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:44792273G>A	uc002oza.3	-	5	1418	c.1315C>T	c.(1315-1317)CGC>TGC	p.R439C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.R435C|ZNF235_uc010xwx.1_Missense_Mutation_p.R353C	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	439	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R439C(1)		ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CAACTAAAGCGTTTACCACAA	0.423												
RELB	5971	broad.mit.edu	37	19	45540998	45540998	+	Missense_Mutation	SNP	G	G	A	rs61735620		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:45540998G>A	uc002paj.1	+	13	1816	c.1690G>A	c.(1690-1692)GAG>AAG	p.E564K	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	564						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCATTACCGCGAGGCGGCCTT	0.692												
NOVA2	4858	broad.mit.edu	37	19	46443203	46443203	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:46443203G>A	uc002pdv.2	-	4	1445	c.1397C>T	c.(1396-1398)ACG>ATG	p.T466M		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	466	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGCGGCTTGCGTGGCCGCGGG	0.652												
NOVA2	4858	broad.mit.edu	37	19	46443210	46443210	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:46443210C>T	uc002pdv.2	-	4	1438	c.1390G>A	c.(1390-1392)GCG>ACG	p.A464T		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	464	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGCGTGGCCGCGGGGCTGCCC	0.652												
GPR77	27202	broad.mit.edu	37	19	47844864	47844864	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:47844864C>A	uc010ela.1	+	2	1026	c.808C>A	c.(808-810)CTG>ATG	p.L270M	GPR77_uc002pgk.1_Missense_Mutation_p.L270M	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	270	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGCCAGGGCCCTGCGGGCTGA	0.637												
CRX	1406	broad.mit.edu	37	19	48342889	48342889	+	Missense_Mutation	SNP	G	G	A	rs142111462		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:48342889G>A	uc002phq.3	+	4	769	c.565G>A	c.(565-567)GCC>ACC	p.A189T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	189					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGACCTCCGCCCCCTATGC	0.667												
TEAD2	8463	broad.mit.edu	37	19	49845794	49845794	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49845794C>T	uc002pnj.2	-	11	1222	c.1131G>A	c.(1129-1131)TCG>TCA	p.S377S	uc002pnb.1_5'Flank|TEAD2_uc002png.2_Silent_p.S380S|TEAD2_uc002pnh.2_Silent_p.S381S|TEAD2_uc002pni.2_Silent_p.S380S|TEAD2_uc010yao.1_Silent_p.S249S|TEAD2_uc010emw.2_Silent_p.S380S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	377	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CGCACATGGGCGAGCGCAGCA	0.572												
TEAD2	8463	broad.mit.edu	37	19	49846583	49846583	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49846583C>T	uc002pnj.2	-	10	1073	c.982G>A	c.(982-984)GGA>AGA	p.G328R	TEAD2_uc002png.2_Missense_Mutation_p.G331R|TEAD2_uc002pnh.2_Missense_Mutation_p.G332R|TEAD2_uc002pni.2_Missense_Mutation_p.G331R|TEAD2_uc010yao.1_Missense_Mutation_p.G200R|TEAD2_uc010emw.2_Missense_Mutation_p.G331R	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	328	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGCTCACTCCGTAGAAGCCA	0.602												
SIGLEC5	8778	broad.mit.edu	37	19	52131128	52131128	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:52131128G>A	uc002pxe.2	-	5	1095	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	319	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAAGCCCAGCGGGTGCTGAGC	0.562												
ZNF432	9668	broad.mit.edu	37	19	52537083	52537083	+	Nonsense_Mutation	SNP	G	G	A	rs74347014	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:52537083G>A	uc002pyk.2	-	5	2167	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	617	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GTATGAGTTCGTTGATGAACA	0.383												
ZNF468	90333	broad.mit.edu	37	19	53344480	53344480	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:53344480G>A	uc002qaf.2	-	4	1218	c.1067C>T	c.(1066-1068)ACA>ATA	p.T356I	ZNF468_uc002qae.2_Missense_Mutation_p.T303I	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	356	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		TTCATTACATGTGTAAGGTTT	0.383												
NLRP12	91662	broad.mit.edu	37	19	54312973	54312973	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54312973T>C	uc002qch.3	-	3	2160	c.1940A>G	c.(1939-1941)CAC>CGC	p.H647R	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.H647R|NLRP12_uc002qcj.3_Missense_Mutation_p.H647R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.H647R	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	647					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGAGACCATGTGCTCCATCTT	0.602												
VSTM1	284415	broad.mit.edu	37	19	54561663	54561663	+	Silent	SNP	C	C	T	rs139186362		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54561663C>T	uc002qcw.3	-	3	428	c.252G>A	c.(250-252)ACG>ACA	p.T84T	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.T84T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	84	Ig-like V-type.					integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCTTCAGGTCCGTGAAGGGGA	0.517												
LENG1	79165	broad.mit.edu	37	19	54660730	54660730	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54660730A>G	uc002qdm.2	-	3	359	c.346T>C	c.(346-348)TAC>CAC	p.Y116H		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	116										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCCCAGGTATGTCAGGATG	0.602												
LENG8	114823	broad.mit.edu	37	19	54969327	54969327	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54969327C>A	uc002qfv.1	+	13	1981	c.1837C>A	c.(1837-1839)CTG>ATG	p.L613M	LENG8_uc002qfw.2_Missense_Mutation_p.L650M			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	613							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCTCAAGTCGCTGTACGCCGA	0.577												
KIR2DL3	3804	broad.mit.edu	37	19	55263160	55263160	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55263160C>A	uc002qgv.2	+	6	793	c.775C>A	c.(775-777)CTC>ATC	p.L259I	KIR2DL3_uc002qgx.2_Missense_Mutation_p.L259I|KIR2DL3_uc002qgy.2_Missense_Mutation_p.L161I|KIR2DL3_uc010erw.1_Missense_Mutation_p.L259I|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	259	Helical; (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		cctcttcatcctcctcctctt	0.408												
KIR3DL1	3811	broad.mit.edu	37	19	55329853	55329853	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55329853C>T	uc002qhk.3	+	3	217	c.154C>T	c.(154-156)CGT>TGT	p.R52C	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R52C	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	52	Extracellular (Potential).|Ig-like C2-type 1.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GTGTCACTATCGTCATAGGTT	0.517												
TNNT1	7138	broad.mit.edu	37	19	55648520	55648520	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55648520C>T	uc002qjb.3	-	11	651	c.562G>A	c.(562-564)GAG>AAG	p.E188K	TNNT1_uc002qiz.3_Missense_Mutation_p.E118K|TNNT1_uc002qja.3_Missense_Mutation_p.E118K|TNNT1_uc002qjc.3_Missense_Mutation_p.E188K|TNNT1_uc002qje.3_Missense_Mutation_p.E177K|TNNT1_uc002qjd.3_Missense_Mutation_p.E177K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	188					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TTCTTACGCTCGGAGAGGATG	0.637												
TTC15	51112	broad.mit.edu	37	2	3392267	3392267	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:3392267C>T	uc002qxm.1	+	2	1079	c.873C>T	c.(871-873)GAC>GAT	p.D291D	TTC15_uc002qxn.1_Silent_p.D291D|TTC15_uc010ewm.1_Silent_p.D291D|TTC15_uc002qxl.1_Silent_p.D291D	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	291							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CAGGGAGTGACGACCCCTTTG	0.711												
KIDINS220	57498	broad.mit.edu	37	2	8946399	8946399	+	Splice_Site	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:8946399A>G	uc002qzc.2	-	7	785	c.603_splice	c.e7+1	p.A201_splice	KIDINS220_uc010yiv.1_Splice_Site_p.A10_splice|KIDINS220_uc002qzd.2_Splice_Site_p.A159_splice|KIDINS220_uc010yiw.1_Splice_Site_p.A202_splice	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAGATACTTACAGCTCCTTC	0.368												
TAF1B	9014	broad.mit.edu	37	2	10059231	10059231	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:10059231A>T	uc002qzz.2	+	13	1433	c.1333A>T	c.(1333-1335)AAA>TAA	p.K445*	TAF1B_uc002qzy.3_Nonsense_Mutation_p.K445*|TAF1B_uc010yja.1_Nonsense_Mutation_p.K190*|TAF1B_uc010exd.2_Nonsense_Mutation_p.K190*	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	445					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTAGCATATAAAAAAAGAGG	0.353												
WDR35	57539	broad.mit.edu	37	2	20173358	20173358	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:20173358A>G	uc002rdi.2	-	8	956	c.848T>C	c.(847-849)GTG>GCG	p.V283A	WDR35_uc002rdj.2_Missense_Mutation_p.V283A|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	283										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAATGTTCACATCTTTGTC	0.443												
ADCY3	109	broad.mit.edu	37	2	25057796	25057796	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:25057796G>A	uc002rfs.3	-	9	1871	c.1672C>T	c.(1672-1674)CCC>TCC	p.P558S	ADCY3_uc002rfr.3_Missense_Mutation_p.P191S|ADCY3_uc010ykm.1_Missense_Mutation_p.P558S	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	558	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGGAATGAGGGGTTGTCGGCC	0.622												
IFT172	26160	broad.mit.edu	37	2	27683910	27683910	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:27683910G>A	uc002rku.2	-	23	2544	c.2493C>T	c.(2491-2493)TGC>TGT	p.C831C		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	831	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTTTACGGTAGCACTCCAGGG	0.453												
ALK	238	broad.mit.edu	37	2	29456558	29456558	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:29456558T>C	uc002rmy.2	-	14	3267	c.2360A>G	c.(2359-2361)AAC>AGC	p.N787S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	787	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GATTAACTGGTTTGTCTGTAG	0.418			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
ALK	238	broad.mit.edu	37	2	30143119	30143119	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:30143119C>T	uc002rmy.2	-	1	1314	c.407G>A	c.(406-408)CGG>CAG	p.R136Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	136	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTTGGCACGCCGGAGCTTGCG	0.731			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
EHD3	30845	broad.mit.edu	37	2	31457553	31457553	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:31457553T>C	uc002rnu.2	+	1	674	c.66T>C	c.(64-66)AGT>AGC	p.S22S	EHD3_uc010ymt.1_Silent_p.S22S	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	22					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					AGACGGTGAGTGAGGGGCTCA	0.652												
SLC8A1	6546	broad.mit.edu	37	2	40655876	40655876	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:40655876A>G	uc002rrx.2	-	1	1569	c.1545T>C	c.(1543-1545)GTT>GTC	p.V515V	SLC8A1_uc002rry.2_Silent_p.V515V|SLC8A1_uc002rrz.2_Silent_p.V515V|SLC8A1_uc002rsa.2_Silent_p.V515V|SLC8A1_uc002rsd.3_Silent_p.V515V|SLC8A1_uc002rsb.1_Silent_p.V515V|SLC8A1_uc010fan.1_Silent_p.V515V|SLC8A1_uc002rsc.1_Silent_p.V515V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	515	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGTGTAGAAACATGATTGG	0.423												
PRKCE	5581	broad.mit.edu	37	2	46237529	46237529	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:46237529A>C	uc002rut.2	+	10	1507	c.1310A>C	c.(1309-1311)AAG>ACG	p.K437T		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	437	Protein kinase.	ATP (By similarity).		K->W: Abolishes activity and S-729 phosphorylation.	activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TATGCTGTGAAGGTCTTAAAG	0.443												
MSH6	2956	broad.mit.edu	37	2	48028150	48028150	+	Missense_Mutation	SNP	A	A	G	rs63750369		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:48028150A>G	uc002rwd.3	+	4	3180	c.3028A>G	c.(3028-3030)ACT>GCT	p.T1010A	MSH6_uc002rwc.2_Missense_Mutation_p.T1010A|MSH6_uc010fbj.2_Missense_Mutation_p.T708A|MSH6_uc010yoi.1_Missense_Mutation_p.T880A|MSH6_uc010yoj.1_Missense_Mutation_p.T708A	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	1010					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGACCAAAACTATTGAAAA	0.398			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
NRXN1	9378	broad.mit.edu	37	2	50850582	50850582	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:50850582A>G	uc010fbq.2	-	6	2580	c.1103T>C	c.(1102-1104)CTG>CCG	p.L368P	NRXN1_uc002rxb.3_Missense_Mutation_p.L15P|NRXN1_uc002rxe.3_Missense_Mutation_p.L335P|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCATTTTTCAGGGCAAGATT	0.433												
CCDC85A	114800	broad.mit.edu	37	2	56420254	56420254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:56420254A>T	uc002rzn.2	+	2	1421	c.919A>T	c.(919-921)AAG>TAG	p.K307*		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	307	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACGCTGCCCAAGCACGTGCT	0.637												
USP34	9736	broad.mit.edu	37	2	61450271	61450271	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:61450271C>T	uc002sbe.2	-	64	7695	c.7673G>A	c.(7672-7674)CGT>CAT	p.R2558H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2558					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GATGCCATCACGAATATGTTG	0.328												
USP34	9736	broad.mit.edu	37	2	61575116	61575116	+	Missense_Mutation	SNP	C	C	T	rs142392366	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:61575116C>T	uc002sbe.2	-	15	2196	c.2174G>A	c.(2173-2175)CGA>CAA	p.R725Q		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	725					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GTCCCCAGTTCGTGTGATACA	0.363												
WDR92	116143	broad.mit.edu	37	2	68352450	68352450	+	RNA	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:68352450G>A	uc002sed.1	-	9		c.1091C>T						Q96MX6	WDR92_HUMAN	Homo sapiens cDNA FLJ31741 fis, clone NT2RI2007148.						apoptosis|histone lysine methylation		methylated histone residue binding				0						CCCTTGGGCCGCATCTCCATC	0.512												
PROKR1	10887	broad.mit.edu	37	2	68882355	68882355	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:68882355C>T	uc010yqj.1	+	2	829	c.829C>T	c.(829-831)CGC>TGC	p.R277C	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	277	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CAAGAGGCTGCGCTGCCGCAG	0.622												
ANTXR1	84168	broad.mit.edu	37	2	69351762	69351762	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:69351762C>T	uc002sfg.2	+	12	1294	c.938C>T	c.(937-939)ACC>ATC	p.T313I	ANTXR1_uc002sfe.2_Missense_Mutation_p.T313I|ANTXR1_uc002sff.2_Missense_Mutation_p.T313I	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	313	Extracellular (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						GTCATCATCACCACCACACAC	0.433									Familial_Infantile_Hemangioma			
PCYOX1	51449	broad.mit.edu	37	2	70504482	70504482	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:70504482T>C	uc002sgn.3	+	6	1542	c.1476T>C	c.(1474-1476)ATT>ATC	p.I492I	PCYOX1_uc010fdo.2_Silent_p.I415I|PCYOX1_uc010yqu.1_Silent_p.I474I	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	492					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						CAGACATGATTGATCAGGATG	0.468												
FAM136A	84908	broad.mit.edu	37	2	70528015	70528015	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:70528015G>A	uc002sgq.3	-	2	262	c.185C>T	c.(184-186)GCT>GTT	p.A62V	FAM136A_uc010fdp.2_RNA	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	62						mitochondrion	protein binding				0						CTGGGCTTGAGCCAGAGGCAC	0.557												
DYSF	8291	broad.mit.edu	37	2	71740970	71740970	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:71740970G>A	uc002sie.2	+	6	958	c.582G>A	c.(580-582)CCG>CCA	p.P194P	DYSF_uc010feg.2_Silent_p.P225P|DYSF_uc010feh.2_Silent_p.P194P|DYSF_uc002sig.3_Silent_p.P194P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.P194P|DYSF_uc010fef.2_Silent_p.P225P|DYSF_uc010fei.2_Silent_p.P225P|DYSF_uc010fek.2_Silent_p.P226P|DYSF_uc010fej.2_Silent_p.P195P|DYSF_uc010fel.2_Silent_p.P195P|DYSF_uc010feo.2_Silent_p.P226P|DYSF_uc010fem.2_Silent_p.P195P|DYSF_uc010fen.2_Silent_p.P226P|DYSF_uc002sif.2_Silent_p.P195P	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	194	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CACGTCCTCCGCCCCACTACC	0.582												
STAMBP	10617	broad.mit.edu	37	2	74086401	74086401	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74086401G>A	uc002sjs.2	+	8	1076	c.1026G>A	c.(1024-1026)GCG>GCA	p.A342A	STAMBP_uc002sjt.2_Silent_p.A342A|STAMBP_uc002sju.2_Silent_p.A342A|STAMBP_uc002sjv.2_Silent_p.A342A	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	342	JAMM motif.|MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						CACAGACCGCGTTTCTCTCCA	0.413												
TET3	200424	broad.mit.edu	37	2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74328942C>T	uc002skb.3	+	9	4622	c.4622C>T	c.(4621-4623)ACG>ATG	p.T1541M		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1541							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CACGCCACCACGCCGCTTAAG	0.662												
DQX1	165545	broad.mit.edu	37	2	74750267	74750267	+	Nonsense_Mutation	SNP	G	G	A	rs150420269	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74750267G>A	uc010yrw.1	-	6	1288	c.1123C>T	c.(1123-1125)CGA>TGA	p.R375*	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	375	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CCTCTTGCTCGCAATCGTCTT	0.502												
RETSAT	54884	broad.mit.edu	37	2	85573156	85573156	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:85573156G>A	uc002spd.2	-	6	1250	c.1059C>T	c.(1057-1059)AAC>AAT	p.N353N	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Silent_p.N292N|RETSAT_uc010fgf.2_Silent_p.N144N	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	353				N -> S (in Ref. 2; BAC11505).	retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	ACAGTCCTGCGTTGGAGACCA	0.582												
KDM3A	55818	broad.mit.edu	37	2	86693820	86693820	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:86693820T>C	uc002sri.3	+	10	1660	c.1333T>C	c.(1333-1335)TCC>CCC	p.S445P	KDM3A_uc010ytj.1_Missense_Mutation_p.S445P|KDM3A_uc010ytk.1_Missense_Mutation_p.S393P	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	445					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						ACATGCACCTTCCCCATCGGA	0.448												
KDM3A	55818	broad.mit.edu	37	2	86697397	86697397	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:86697397C>T	uc002sri.3	+	11	1917	c.1590C>T	c.(1588-1590)TTC>TTT	p.F530F	KDM3A_uc010ytj.1_Silent_p.F530F|KDM3A_uc010ytk.1_Silent_p.F478F	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	530					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GCGAGGCCTTCGTACAGGATG	0.493												
MRPS5	64969	broad.mit.edu	37	2	95756174	95756174	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:95756174A>C	uc002sub.2	-	11	1243	c.1025T>G	c.(1024-1026)ATG>AGG	p.M342R	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	342					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						GAGGCTGAGCATATTAATGGA	0.527												
BUB1	699	broad.mit.edu	37	2	111414651	111414651	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:111414651C>T	uc002tgc.2	-	15	1772	c.1660G>A	c.(1660-1662)GGA>AGA	p.G554R	BUB1_uc010yxh.1_Missense_Mutation_p.G534R|BUB1_uc010fkb.2_Missense_Mutation_p.G554R	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	554					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAGCGTTCTCCAAAGGTCCTG	0.368												
STEAP3	55240	broad.mit.edu	37	2	120020675	120020675	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:120020675A>G	uc002tlp.2	+	6	1385	c.1228A>G	c.(1228-1230)ACG>GCG	p.T410A	STEAP3_uc002tlq.2_Missense_Mutation_p.T420A|STEAP3_uc002tlr.2_Missense_Mutation_p.T410A|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	410	Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CACACTGCACACGCTCACCTA	0.612												
CCDC74A	90557	broad.mit.edu	37	2	132290278	132290278	+	Missense_Mutation	SNP	G	G	A	rs138310081	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:132290278G>A	uc002tta.2	+	5	852	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	CCDC74A_uc002ttb.2_Missense_Mutation_p.R201Q	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										skin(1)	1						CTTCCCCTGCGAAAGCCCACC	0.642												
THSD7B	80731	broad.mit.edu	37	2	137814173	137814173	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:137814173T>C	uc002tva.1	+	2	230	c.230T>C	c.(229-231)GTT>GCT	p.V77A	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGTGGGAGGTTTCTGACTGG	0.542												
ZEB2	9839	broad.mit.edu	37	2	145154054	145154054	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:145154054T>C	uc002tvu.2	-	9	3472	c.2992A>G	c.(2992-2994)ATG>GTG	p.M998V	ZEB2_uc002tvv.2_Missense_Mutation_p.M992V|ZEB2_uc010zbm.1_Missense_Mutation_p.M969V|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	998						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATGCATACATGCCACTCTCT	0.443												
ARL5A	26225	broad.mit.edu	37	2	152663420	152663420	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:152663420C>T	uc002txx.1	-	5	725	c.406G>A	c.(406-408)GCA>ACA	p.A136T	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.A99T|ARL5A_uc002txw.1_Missense_Mutation_p.A99T	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	136					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)		GAGATTTCTGCTACAGTCATG	0.388												
PRPF40A	55660	broad.mit.edu	37	2	153526809	153526809	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:153526809A>G	uc002tyh.3	-	15	1588	c.1566T>C	c.(1564-1566)ACT>ACC	p.T522T	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Silent_p.T469T	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	549	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CTTCAGACCAAGTGGTAGAGT	0.363												
IFIH1	64135	broad.mit.edu	37	2	163174504	163174504	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:163174504G>A	uc002uce.2	-	1	536	c.314C>T	c.(313-315)CCA>CTA	p.P105L	IFIH1_uc002ucf.2_Missense_Mutation_p.P105L	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	105					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						CTCAAACGATGGAGAGGGCAA	0.562												
SCN2A	6326	broad.mit.edu	37	2	166179909	166179909	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:166179909C>T	uc002udc.2	+	12	2205	c.1915C>T	c.(1915-1917)CCC>TCC	p.P639S	SCN2A_uc002udd.2_Missense_Mutation_p.P639S|SCN2A_uc002ude.2_Missense_Mutation_p.P639S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	639					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CCCCATCCTGCCCATGAATGG	0.617												
TTN	7273	broad.mit.edu	37	2	179428619	179428619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179428619G>A	uc010zfg.1	-	275	74760	c.74536C>T	c.(74536-74538)CGA>TGA	p.R24846*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R18541*|TTN_uc010zfi.1_Nonsense_Mutation_p.R18474*|TTN_uc010zfj.1_Nonsense_Mutation_p.R18349*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25773							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)			CAAGAGAGTCGGCTTGTCTCC	0.438												
TTN	7273	broad.mit.edu	37	2	179480516	179480516	+	Splice_Site	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179480516C>A	uc010zfg.1	-	207	40833	c.40609_splice	c.e207-1	p.V13537_splice	TTN_uc010zfh.1_Splice_Site_p.V7232_splice|TTN_uc010zfi.1_Splice_Site_p.V7165_splice|TTN_uc010zfj.1_Splice_Site_p.V7040_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								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)			AGTCCATAACCTGGGACAAAG	0.378												
TTN	7273	broad.mit.edu	37	2	179611454	179611454	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179611454G>A	uc002unb.2	-	46	15897	c.15673C>T	c.(15673-15675)CCA>TCA	p.P5225S	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	8744							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)			CTTTCATCTGGCTCTAGTAAA	0.383												
PIKFYVE	200576	broad.mit.edu	37	2	209209876	209209876	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:209209876C>T	uc002vcz.2	+	33	5227	c.5069C>T	c.(5068-5070)GCG>GTG	p.A1690V		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1690					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TTGTCTAAAGCGACTCAGTGG	0.328												
PTH2R	5746	broad.mit.edu	37	2	209271775	209271775	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:209271775G>A	uc002vdb.2	+	1	220	c.7G>A	c.(7-9)GGG>AGG	p.G3R	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	3						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGGCATGGCCGGGCTGGGGGC	0.637												
ABCA12	26154	broad.mit.edu	37	2	215851418	215851418	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:215851418A>G	uc002vew.2	-	28	4231	c.4011T>C	c.(4009-4011)CCT>CCC	p.P1337P	ABCA12_uc002vev.2_Silent_p.P1019P|ABCA12_uc010zjn.1_Silent_p.P264P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1337					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTAGGTTCAGGCTCGATGT	0.423												
USP37	57695	broad.mit.edu	37	2	219319721	219319721	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:219319721G>A	uc002vie.2	-	26	3325	c.2872C>T	c.(2872-2874)CTG>TTG	p.L958L	USP37_uc010fvs.1_Silent_p.L958L|USP37_uc010zkf.1_Silent_p.L958L|USP37_uc002vif.2_Silent_p.L958L|USP37_uc002vig.2_Silent_p.L864L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	958					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCTGTTTCCAGCAGCTCATCA	0.418												
STK11IP	114790	broad.mit.edu	37	2	220480877	220480877	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:220480877C>T	uc002vml.2	+	25	3305	c.3262C>T	c.(3262-3264)CGG>TGG	p.R1088W		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	1088					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCGGACTCCGGACAGTGAT	0.617												
DIS3L2	129563	broad.mit.edu	37	2	233198664	233198664	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:233198664G>A	uc010fxz.2	+	17	2401	c.2125G>A	c.(2125-2127)GTC>ATC	p.V709I	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	709							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTTTGCCGACGTCCTGGTGCA	0.687												
CXCR7	57007	broad.mit.edu	37	2	237489811	237489811	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:237489811C>T	uc010fyq.2	+	3	933	c.703C>T	c.(703-705)CTG>TTG	p.L235L	CXCR7_uc002vwd.2_Silent_p.L235L	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	235	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTACTTCCTGCTGGCCAGAGC	0.572												
FARP2	9855	broad.mit.edu	37	2	242401954	242401954	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242401954A>G	uc002wbi.1	+	15	1721	c.1604A>G	c.(1603-1605)GAG>GGG	p.E535G	FARP2_uc010zoq.1_Missense_Mutation_p.E535G|FARP2_uc010zor.1_Missense_Mutation_p.E535G	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	535	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCTGCAGACGAGGCCTACTTC	0.483												
ATG4B	23192	broad.mit.edu	37	2	242598544	242598544	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242598544G>A	uc002wbv.2	+	7	583	c.480G>A	c.(478-480)ACG>ACA	p.T160T	ATG4B_uc002wbu.2_Silent_p.T86T|ATG4B_uc002wbw.2_Silent_p.T160T|ATG4B_uc010zox.1_Silent_p.T146T|ATG4B_uc010zoy.1_Silent_p.T86T|ATG4B_uc010fzp.2_Silent_p.T160T|ATG4B_uc010zoz.1_Silent_p.T86T	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	160					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TCTTCGATACGTGGAGCTCCT	0.453												
DTYMK	1841	broad.mit.edu	37	2	242618032	242618032	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242618032G>A	uc002wbz.1	-	4	392	c.363C>T	c.(361-363)GAC>GAT	p.D121D	DTYMK_uc010zpa.1_Intron|DTYMK_uc010zpb.1_RNA|DTYMK_uc002wca.1_RNA|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	121					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GAAGGCCCACGTCTGGCTGTT	0.502												
FERMT1	55612	broad.mit.edu	37	20	6057881	6057881	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:6057881T>C	uc002wmr.2	-	15	2762	c.1973A>G	c.(1972-1974)AAG>AGG	p.K658R	FERMT1_uc002wmq.2_Missense_Mutation_p.K211R|FERMT1_uc010gbt.2_Missense_Mutation_p.K401R	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	658					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						ATTCTGGTCCTTGGAGCGGGT	0.502											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
THBD	7056	broad.mit.edu	37	20	23028939	23028939	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:23028939C>T	uc002wss.2	-	1	1363	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.P342P	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	401	EGF-like 4.|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGCACCTGTGCGGCTCGTGGG	0.622												
C20orf114	92747	broad.mit.edu	37	20	31876653	31876653	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:31876653C>T	uc002wyw.1	+	3	383	c.222C>T	c.(220-222)GGC>GGT	p.G74G	C20orf114_uc010gej.1_Silent_p.G74G	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	74						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						CTGTGCTGGGCAGCCTGGTGA	0.632												
CTNNBL1	56259	broad.mit.edu	37	20	36488339	36488339	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:36488339C>T	uc010zvw.1	+	15	1522	c.1431C>T	c.(1429-1431)ACC>ACT	p.T477T	CTNNBL1_uc002xhh.2_Silent_p.T290T|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Silent_p.T225T	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	477					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				ACAATGACACCGAGGAGGAGT	0.522												
TGM2	7052	broad.mit.edu	37	20	36760860	36760860	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:36760860T>A	uc002xhr.2	-	11	1758	c.1658A>T	c.(1657-1659)GAC>GTC	p.D553V	TGM2_uc002xhq.2_Missense_Mutation_p.D154V|TGM2_uc010zvx.1_Missense_Mutation_p.D472V|TGM2_uc010zvy.1_Missense_Mutation_p.D493V|TGM2_uc002xhs.1_Missense_Mutation_p.D529V	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	553					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGTAAGGCAGTCACGGTATTT	0.542												
SLC32A1	140679	broad.mit.edu	37	20	37357018	37357018	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:37357018G>A	uc002xjc.2	+	2	1577	c.1314G>A	c.(1312-1314)GCG>GCA	p.A438A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	438	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCGCTGCGCGCTCGTCGTCT	0.667												
PTPRT	11122	broad.mit.edu	37	20	40735533	40735533	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:40735533T>C	uc002xkg.2	-	24	3467	c.3283A>G	c.(3283-3285)ATT>GTT	p.I1095V	PTPRT_uc010ggj.2_Missense_Mutation_p.I1114V|PTPRT_uc010ggi.2_Missense_Mutation_p.I298V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1095	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCAATGGCAATGAAGCAGCCA	0.582												
WFDC9	259240	broad.mit.edu	37	20	44238793	44238793	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:44238793T>C	uc002xoy.2	-	3	246	c.28A>G	c.(28-30)ATG>GTG	p.M10V		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	protease inhibitor WAP9 precursor	10						extracellular region					0		Myeloproliferative disorder(115;0.0122)				GAGATGAACATGACGAGTAGA	0.502												
KCNQ2	3785	broad.mit.edu	37	20	62070004	62070004	+	Missense_Mutation	SNP	G	G	A	rs118192215		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62070004G>A	uc002yey.1	-	7	1174	c.997C>T	c.(997-999)CGG>TGG	p.R333W	KCNQ2_uc002yez.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfa.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfb.1_Missense_Mutation_p.R333W|KCNQ2_uc011aax.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfc.1_Missense_Mutation_p.R333W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	333	Cytoplasmic (Potential).		R -> Q (in EBN1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels).		axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCGGGTTCCGCCTCTTCTCA	0.617												
KCNQ2	3785	broad.mit.edu	37	20	62073780	62073780	+	Silent	SNP	C	C	T	rs148654588		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62073780C>T	uc002yey.1	-	5	972	c.795G>A	c.(793-795)GCG>GCA	p.A265A	KCNQ2_uc002yez.1_Silent_p.A265A|KCNQ2_uc002yfa.1_Silent_p.A265A|KCNQ2_uc002yfb.1_Silent_p.A265A|KCNQ2_uc011aax.1_Silent_p.A265A|KCNQ2_uc002yfc.1_Silent_p.A265A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	265					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGAGTGCATCCGCGTAGGTGT	0.577												
C20orf195	79025	broad.mit.edu	37	20	62187821	62187821	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62187821G>A	uc002yfj.2	+	2	897	c.805G>A	c.(805-807)GAC>AAC	p.D269N	C20orf195_uc002yfk.2_Missense_Mutation_p.D269N	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	269											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTGCACCTTCGACGTCCGAAA	0.627												
APP	351	broad.mit.edu	37	21	27347434	27347434	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:27347434G>A	uc002ylz.2	-	11	1607	c.1407C>T	c.(1405-1407)CGC>CGT	p.R469R	APP_uc010glk.2_Silent_p.R445R|APP_uc002yma.2_Silent_p.R450R|APP_uc011ach.1_Silent_p.R413R|APP_uc002ymb.2_Silent_p.R394R|APP_uc010glj.2_Silent_p.R338R|APP_uc011aci.1_Silent_p.R359R	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	469	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GGGCCAGGCGGCGGCGGTCAT	0.582												
APP	351	broad.mit.edu	37	21	27372467	27372467	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:27372467G>A	uc002ylz.2	-	7	1096	c.896C>T	c.(895-897)CCG>CTG	p.P299L	APP_uc010glk.2_Missense_Mutation_p.P294L|APP_uc002yma.2_Missense_Mutation_p.P299L|APP_uc011ach.1_Missense_Mutation_p.P243L|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	299	Extracellular (Potential).|BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGCTCGGCACGGCCCCGTCTC	0.522												
TIAM1	7074	broad.mit.edu	37	21	32493117	32493117	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:32493117G>A	uc002yow.1	-	29	4817	c.4345C>T	c.(4345-4347)CGG>TGG	p.R1449W	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1389W	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1449	Poly-Arg.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CGAGCCAGCCGCCGCCTCCTC	0.542												
GART	2618	broad.mit.edu	37	21	34892698	34892698	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:34892698A>G	uc002yrx.2	-	14	1810	c.1675T>C	c.(1675-1677)TGT>CGT	p.C559R	GART_uc002yrz.2_Missense_Mutation_p.C559R|GART_uc010gmd.2_Missense_Mutation_p.C221R|GART_uc002yry.2_Missense_Mutation_p.C559R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	559	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	GCTTTTCCACAAGCTTTAGCA	0.408												
TTC3	7267	broad.mit.edu	37	21	38516874	38516874	+	Missense_Mutation	SNP	C	C	T	rs139364689		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:38516874C>T	uc002yvz.2	+	21	1927	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	TTC3_uc011aee.1_Missense_Mutation_p.R298C|TTC3_uc002ywa.2_Missense_Mutation_p.R608C|TTC3_uc002ywb.2_Missense_Mutation_p.R608C|TTC3_uc010gnf.2_Missense_Mutation_p.R373C|TTC3_uc002ywc.2_Missense_Mutation_p.R298C|TTC3_uc011aed.1_Missense_Mutation_p.R298C|TTC3_uc010gne.1_Missense_Mutation_p.R608C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	608	TPR 4.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CTTGATTTATCGTCTTCCTGG	0.333												
BRWD1	54014	broad.mit.edu	37	21	40568453	40568453	+	Missense_Mutation	SNP	G	G	A	rs148068634		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:40568453G>A	uc002yxk.1	-	41	6681	c.6542C>T	c.(6541-6543)ACG>ATG	p.T2181M	BRWD1_uc010goc.1_Missense_Mutation_p.T824M|BRWD1_uc002yxl.2_Missense_Mutation_p.T2181M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2181					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)				TTTTCCTTTCGTTTTCCTCCT	0.343												
ITGB2	3689	broad.mit.edu	37	21	46320324	46320324	+	Missense_Mutation	SNP	C	C	T	rs148775158		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:46320324C>T	uc002zgd.2	-	6	852	c.808G>A	c.(808-810)GCG>ACG	p.A270T	ITGB2_uc002zge.2_Missense_Mutation_p.A270T|ITGB2_uc002zgf.3_Missense_Mutation_p.A270T|ITGB2_uc011afl.1_Missense_Mutation_p.A192T|ITGB2_uc010gpw.2_Missense_Mutation_p.A213T|ITGB2_uc002zgg.2_Missense_Mutation_p.A270T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	270	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCGTCGCCCGCGAAATGGAAG	0.617												
ARVCF	421	broad.mit.edu	37	22	19966463	19966463	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:19966463C>T	uc002zqz.2	-	7	1808	c.1537G>A	c.(1537-1539)GCC>ACC	p.A513T	ARVCF_uc002zqy.2_Missense_Mutation_p.A35T	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	513					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GTCCACTCGGCGTCCCGTGGC	0.622												
CCDC116	164592	broad.mit.edu	37	22	21989426	21989426	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:21989426T>C	uc002zve.2	+	4	1167	c.1074T>C	c.(1072-1074)AAT>AAC	p.N358N	CCDC116_uc011aih.1_Silent_p.N358N	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	358										ovary(1)|skin(1)	2	Colorectal(54;0.105)					AACCCACCAATGGCGGGCAGC	0.647												
SDF2L1	23753	broad.mit.edu	37	22	21998265	21998265	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:21998265G>A	uc002zvf.2	+	3	551	c.467G>A	c.(466-468)CGT>CAT	p.R156H		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1 precursor	156	MIR 3.					endoplasmic reticulum lumen|membrane					0	Colorectal(54;0.105)					CACTGGGAGCGTGAGGCTGCT	0.612											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C22orf15	150248	broad.mit.edu	37	22	24106850	24106850	+	Missense_Mutation	SNP	G	G	A	rs140216229		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:24106850G>A	uc011aja.1	+	4	561	c.275G>A	c.(274-276)CGC>CAC	p.R92H	C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.2_Missense_Mutation_p.R97H	NM_182520	NP_872326	Q8WYQ4	CV015_HUMAN	hypothetical protein LOC150248	92											0		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				GCCTCCACCCGCTATGAGTCC	0.577												
SUSD2	56241	broad.mit.edu	37	22	24580150	24580150	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:24580150C>T	uc002zzn.1	+	4	530	c.486C>T	c.(484-486)AAC>AAT	p.N162N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	162	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGTTGGTGAACGAGACGCGTT	0.607												
GGT1	2678	broad.mit.edu	37	22	25019812	25019812	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:25019812G>A	uc003aan.1	+	11	1436	c.949G>A	c.(949-951)GTA>ATA	p.V317I	GGT1_uc003aas.1_Missense_Mutation_p.V317I|GGT1_uc003aat.1_Missense_Mutation_p.V317I|GGT1_uc003aau.1_Missense_Mutation_p.V317I|GGT1_uc003aav.1_Missense_Mutation_p.V317I|GGT1_uc003aaw.1_Missense_Mutation_p.V317I|GGT1_uc003aax.1_Missense_Mutation_p.V317I	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	317	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCACCGCATCGTAGAGGCTTT	0.617												
TBC1D10A	83874	broad.mit.edu	37	22	30689776	30689776	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:30689776C>T	uc011akt.1	-	8	938	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.R163Q|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R217Q|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R312Q|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R305Q	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	305						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CAGCCCCACCCGGAAGATGAT	0.617												
PLA2G3	50487	broad.mit.edu	37	22	31533772	31533772	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:31533772C>T	uc003aka.2	-	4	1119	c.990G>A	c.(988-990)CAG>CAA	p.Q330Q		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	330					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CCATAGGGTCCTGGAGGGCTG	0.627												
POLR2F	5435	broad.mit.edu	37	22	38355392	38355392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:38355392C>T	uc003aul.2	+	3	251	c.130C>T	c.(130-132)CGA>TGA	p.R44*	POLR2F_uc010gxi.2_Missense_Mutation_p.A37V|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	44					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					CTCTGGGGAGCGACCGCAGGC	0.577												
ARFGAP3	26286	broad.mit.edu	37	22	43195135	43195135	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:43195135G>A	uc003bdd.2	-	15	1663	c.1443C>T	c.(1441-1443)AAC>AAT	p.N481N	ARFGAP3_uc010gzf.2_Silent_p.N437N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	481					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TGTCGGGGGCGTTGGGCAGCA	0.562												
EFCAB6	64800	broad.mit.edu	37	22	43976413	43976413	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:43976413C>T	uc003bdy.1	-	25	3374	c.3159G>A	c.(3157-3159)ACG>ACA	p.T1053T	EFCAB6_uc003bdz.1_Silent_p.T901T|EFCAB6_uc010gzi.1_Silent_p.T901T|EFCAB6_uc010gzj.1_Silent_p.T279T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1053					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGGATTCAGCGTTGCAAAAT	0.488												
NUP50	10762	broad.mit.edu	37	22	45571865	45571865	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:45571865G>T	uc003bfr.2	+	4	706	c.244G>T	c.(244-246)GGG>TGG	p.G82W	NUP50_uc003bfs.2_Missense_Mutation_p.G54W|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Missense_Mutation_p.G54W|NUP50_uc011aqo.1_5'Flank	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	82	5 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGCGCTGGAGGGAAGCCTTT	0.512												
CRELD1	78987	broad.mit.edu	37	3	9982596	9982596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:9982596C>T	uc003bug.2	+	6	641	c.523C>T	c.(523-525)CGA>TGA	p.R175*	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Nonsense_Mutation_p.R175*|CRELD1_uc003buh.2_Nonsense_Mutation_p.R175*|CRELD1_uc003bui.2_Nonsense_Mutation_p.R175*|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	175	Extracellular (Potential).|EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						AGAAGGGACACGAGGGGGCAG	0.632												
FANCD2	2177	broad.mit.edu	37	3	10106458	10106458	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10106458C>T	uc003buw.2	+	23	2145	c.2067C>T	c.(2065-2067)TAC>TAT	p.Y689Y	FANCD2_uc003bux.1_Silent_p.Y689Y|FANCD2_uc003buy.1_Silent_p.Y689Y|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	689					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAAGAATACGACACTCAGG	0.498			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
VHL	7428	broad.mit.edu	37	3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	rs5030818		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10191488C>T	uc003bvc.2	+	3	694	c.481C>T	c.(481-483)CGA>TGA	p.R161*	VHL_uc003bvd.2_Nonsense_Mutation_p.R120*	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	161	Interaction with Elongin BC complex.		R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.R161*(10)|p.R161P(3)|p.R161del(1)|p.R161fs*13(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161Q(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial			
VHL	7428	broad.mit.edu	37	3	10191562	10191562	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10191562C>T	uc003bvc.2	+	3	768	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	VHL_uc003bvd.2_Silent_p.Y144Y	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	185					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.Y185fs*17(4)|p.Y185*(2)|p.Y185fs*1(1)|p.S183*(1)|p.Y185fs*11(1)|p.Y185Y(1)|p.Y185fs*29(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGTCGCTCTACGAAGATCTGG	0.517		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial			
NUP210	23225	broad.mit.edu	37	3	13367374	13367374	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:13367374G>A	uc003bxv.1	-	33	4648	c.4565C>T	c.(4564-4566)ACG>ATG	p.T1522M		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1522	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AGCCACACCCGTCTTGGGGTC	0.627												
FGD5	152273	broad.mit.edu	37	3	14862458	14862458	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:14862458A>C	uc003bzc.2	+	1	1990	c.1880A>C	c.(1879-1881)AAG>ACG	p.K627T	FGD5_uc011avk.1_Missense_Mutation_p.K627T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	627					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						ATCACCAAGAAGCCCATCACA	0.557												
FGD5	152273	broad.mit.edu	37	3	14862863	14862863	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:14862863G>T	uc003bzc.2	+	1	2395	c.2285G>T	c.(2284-2286)CGG>CTG	p.R762L	FGD5_uc011avk.1_Missense_Mutation_p.R762L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	762					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						ACCAAGCCACGGTCCATCTCC	0.577												
GALNTL2	117248	broad.mit.edu	37	3	16260987	16260987	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:16260987T>C	uc003car.3	+	7	1945	c.1470T>C	c.(1468-1470)GCT>GCC	p.A490A	GALNTL2_uc003caq.3_Silent_p.A223A|GALNTL2_uc003cas.3_Silent_p.A20A	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	490	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGTTTCTGGCTAATGTCTACC	0.562												
THRB	7068	broad.mit.edu	37	3	24164475	24164475	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:24164475C>T	uc003ccx.3	-	11	1635	c.1286G>A	c.(1285-1287)CGG>CAG	p.R429Q	THRB_uc010hfe.2_Missense_Mutation_p.R429Q|THRB_uc003ccy.3_Missense_Mutation_p.R429Q|THRB_uc003ccz.3_Missense_Mutation_p.R424Q	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	429	Ligand-binding.|Interaction with NR2F6.		R -> Q (in PRTH).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCTATCATCCGCAGATCTGT	0.493												
NEK10	152110	broad.mit.edu	37	3	27216147	27216147	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:27216147C>T	uc010hfk.2	-	6	848	c.619G>A	c.(619-621)GAG>AAG	p.E207K	NEK10_uc003cds.1_Missense_Mutation_p.E292K|NEK10_uc010hfj.2_Missense_Mutation_p.E207K			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	895							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GTACCTTTCTCAGCATTTTCC	0.483												
GADL1	339896	broad.mit.edu	37	3	30769843	30769843	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:30769843T>C	uc003cep.2	-	15	1504	c.1457A>G	c.(1456-1458)CAC>CGC	p.H486R		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	486					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	CTTTCCCCGGTGCGGCTGGTA	0.562												
CCR4	1233	broad.mit.edu	37	3	32995136	32995136	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:32995136T>C	uc003cfg.1	+	2	390	c.222T>C	c.(220-222)ACT>ACC	p.T74T		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	74	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						GGTCCATGACTGATGTGTACC	0.498												
TRAK1	22906	broad.mit.edu	37	3	42251455	42251455	+	Silent	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:42251455A>C	uc003cky.2	+	14	2157	c.1941A>C	c.(1939-1941)CCA>CCC	p.P647P	TRAK1_uc011azh.1_Silent_p.P647P|TRAK1_uc011azi.1_Intron|TRAK1_uc011azj.1_Silent_p.P573P|TRAK1_uc003cla.2_Silent_p.P589P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	647					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CCTCCACTCCAGTTCAGCACC	0.562												
SCAP	22937	broad.mit.edu	37	3	47455441	47455441	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:47455441C>T	uc003crh.1	-	23	3998	c.3743G>A	c.(3742-3744)CGC>CAC	p.R1248H	SCAP_uc011baz.1_Missense_Mutation_p.R992H|SCAP_uc003crg.2_Missense_Mutation_p.R855H|uc003cri.2_5'Flank	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1248	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGGATCTGGCGGGCAGGCTG	0.592												
CELSR3	1951	broad.mit.edu	37	3	48697911	48697911	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:48697911C>T	uc003cul.2	-	1	2438	c.2157G>A	c.(2155-2157)GTG>GTA	p.V719V	CELSR3_uc003cuf.1_Silent_p.V789V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	719	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTAATGCTCCACAGACTCAC	0.552												
RHOA	387	broad.mit.edu	37	3	49412973	49412973	+	Missense_Mutation	SNP	C	C	T	rs11552761		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:49412973C>T	uc003cwu.2	-	2	326	c.50G>A	c.(49-51)GGA>GAA	p.G17E	RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	17	GTP.				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.G17V(1)		ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GCATGTCTTTCCACAGGCTCC	0.473												
BSN	8927	broad.mit.edu	37	3	49699948	49699948	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:49699948A>C	uc003cxe.3	+	6	10784	c.10670A>C	c.(10669-10671)GAG>GCG	p.E3557A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3557					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E3557D(1)		ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCGTGAGGAGGGCTACATC	0.597												
RPL29	6159	broad.mit.edu	37	3	52027925	52027925	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:52027925C>T	uc003dcs.2	-	4	414	c.320G>A	c.(319-321)CGT>CAT	p.R107H		NM_000992	NP_000983	P47914	RL29_HUMAN	ribosomal protein L29	107					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCACGAGCACGCTTCCCAAG	0.507												
ITIH1	3697	broad.mit.edu	37	3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:52824844C>T	uc003dfs.2	+	20	2425	c.2401C>T	c.(2401-2403)CGA>TGA	p.R801*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.R402*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.R355*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.R167*	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612												
CACNA1D	776	broad.mit.edu	37	3	53694302	53694302	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:53694302A>G	uc003dgv.3	+	5	929	c.766A>G	c.(766-768)AGT>GGT	p.S256G	CACNA1D_uc003dgu.3_Missense_Mutation_p.S256G|CACNA1D_uc003dgy.3_Missense_Mutation_p.S256G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	256	Cytoplasmic (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGGAGTGCCCAGTAAGCACTT	0.517												
CACNA2D3	55799	broad.mit.edu	37	3	54925416	54925416	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:54925416G>A	uc003dhf.2	+	25	2233	c.2185G>A	c.(2185-2187)GGC>AGC	p.G729S	CACNA2D3_uc003dhg.1_Missense_Mutation_p.G635S|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	729	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCCTTCCTCGGCACTCGCAC	0.532												
CADPS	8618	broad.mit.edu	37	3	62451042	62451042	+	Silent	SNP	G	G	A	rs62243467	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:62451042G>A	uc003dll.2	-	26	3996	c.3636C>T	c.(3634-3636)ACC>ACT	p.T1212T	CADPS_uc003dlj.1_Silent_p.T167T|CADPS_uc003dlk.1_Silent_p.T660T|CADPS_uc003dlm.2_Silent_p.T1173T|CADPS_uc003dln.2_Silent_p.T1133T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1212	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTTACTTACGGTAAATGACA	0.373												
SHQ1	55164	broad.mit.edu	37	3	72881554	72881554	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:72881554C>T	uc003dpf.2	-	5	672	c.565G>A	c.(565-567)GCT>ACT	p.A189T	SHQ1_uc010hod.2_Missense_Mutation_p.A100T	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	189					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCCAGCTCAGCGGCCAGGCGC	0.388												
CADM2	253559	broad.mit.edu	37	3	86114782	86114782	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:86114782G>A	uc003dqj.2	+	9	1717	c.1091G>A	c.(1090-1092)GGC>GAC	p.G364D	CADM2_uc003dqk.2_Missense_Mutation_p.G333D|CADM2_uc003dql.2_Missense_Mutation_p.G366D	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	364	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGCCAGAATGGCCCTGACCAT	0.403												
OR5H2	79310	broad.mit.edu	37	3	98001800	98001800	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:98001800A>G	uc003dsj.1	+	1	69	c.69A>G	c.(67-69)ACA>ACG	p.T23T		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						CAGGACTTACATATCAGCCAG	0.413												
GPR15	2838	broad.mit.edu	37	3	98251069	98251069	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:98251069C>T	uc011bgy.1	+	1	192	c.192C>T	c.(190-192)AGC>AGT	p.S64S		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	64	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AACCCGGCAGCCGAAGACTGA	0.483												
MORC1	27136	broad.mit.edu	37	3	108682287	108682287	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:108682287C>T	uc003dxl.2	-	27	2860	c.2773G>A	c.(2773-2775)GCA>ACA	p.A925T	MORC1_uc011bhn.1_Missense_Mutation_p.A904T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	925	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						AACAATAGTGCCAGTTTTATA	0.244												
TMPRSS7	344805	broad.mit.edu	37	3	111795755	111795755	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:111795755T>C	uc010hqb.2	+	14	1780	c.1610T>C	c.(1609-1611)CTC>CCC	p.L537P	TMPRSS7_uc011bhr.1_Missense_Mutation_p.L392P	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	663	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ACTGCACACCTCGGGATGTAT	0.433												
QTRTD1	79691	broad.mit.edu	37	3	113786834	113786834	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:113786834G>A	uc003eay.2	+	5	487	c.257G>A	c.(256-258)GGC>GAC	p.G86D	QTRTD1_uc003eaz.2_Missense_Mutation_p.G98D|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_Intron	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	86					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GTTTATACAGGCATGCCAGAA	0.458												
TMEM39A	55254	broad.mit.edu	37	3	119165905	119165905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:119165905G>A	uc003eck.1	-	5	898	c.535C>T	c.(535-537)CGA>TGA	p.R179*	TMEM39A_uc003ecl.1_Nonsense_Mutation_p.R27*	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	179						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GAATGGCTTCGAAAGAGATTG	0.418												
KPNA1	3836	broad.mit.edu	37	3	122152609	122152609	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:122152609T>C	uc003efd.1	-	12	1185	c.1149A>G	c.(1147-1149)CCA>CCG	p.P383P	KPNA1_uc003efb.1_Silent_p.P182P|KPNA1_uc003efc.1_Silent_p.P182P|KPNA1_uc011bjr.1_Silent_p.P182P|KPNA1_uc010hrh.2_Silent_p.P182P|KPNA1_uc003efe.2_Silent_p.P383P	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	383	ARM 8.|Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		TAATGAGGGCTGGGAAAATGT	0.328												
MYLK	4638	broad.mit.edu	37	3	123452994	123452994	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:123452994C>T	uc003ego.2	-	10	1131	c.849G>A	c.(847-849)TCG>TCA	p.S283S	MYLK_uc011bjw.1_Silent_p.S283S|MYLK_uc003egp.2_Silent_p.S283S|MYLK_uc003egq.2_Silent_p.S283S|MYLK_uc003egr.2_Silent_p.S283S|MYLK_uc003egs.2_Silent_p.S107S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	283					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCCAGCTTCGACTCCTTTG	0.557												
CCDC14	64770	broad.mit.edu	37	3	123633848	123633848	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:123633848A>G	uc011bjx.1	-	13	2731	c.2640T>C	c.(2638-2640)TGT>TGC	p.C880C	CCDC14_uc003egv.3_Silent_p.C521C|CCDC14_uc003egx.3_Silent_p.C680C|CCDC14_uc010hrt.2_Silent_p.C839C|CCDC14_uc003egy.3_Silent_p.C680C|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	880						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATGGGCCATGACATGCAGTTT	0.463												
KALRN	8997	broad.mit.edu	37	3	124376608	124376608	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:124376608T>C	uc003ehg.2	+	41	6118	c.5991T>C	c.(5989-5991)TGT>TGC	p.C1997C	KALRN_uc003ehi.2_Silent_p.C338C|KALRN_uc003ehk.2_Silent_p.C300C|KALRN_uc011bjz.1_Silent_p.C89C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1996	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGGAAAAGTGTATCCAGGAGC	0.408												
SEC61A1	29927	broad.mit.edu	37	3	127783795	127783795	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:127783795G>A	uc003ekb.2	+	8	876	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.R178Q|SEC61A1_uc003ekd.2_Missense_Mutation_p.R111Q|SEC61A1_uc003ekg.2_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	231	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						CGAGCCCTTCGGGAGGCGTTC	0.507												
COL6A6	131873	broad.mit.edu	37	3	130289969	130289969	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:130289969G>A	uc010htl.2	+	6	2740	c.2709G>A	c.(2707-2709)CGG>CGA	p.R903R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	903	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTGAAGCCCGGGGCAGCCGCC	0.547												
COL6A6	131873	broad.mit.edu	37	3	130293357	130293357	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:130293357G>A	uc010htl.2	+	7	3566	c.3535G>A	c.(3535-3537)GCG>ACG	p.A1179T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1179	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTGTACCACAGCGGGTGAAAG	0.458												
SLCO2A1	6578	broad.mit.edu	37	3	133666179	133666179	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:133666179T>C	uc003eqa.3	-	9	1490	c.1216A>G	c.(1216-1218)ACC>GCC	p.T406A	SLCO2A1_uc003eqb.3_Missense_Mutation_p.T330A|SLCO2A1_uc011blv.1_Missense_Mutation_p.T225A	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	406	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						ATGGAGATGGTGATGATGGTG	0.517												
DBR1	51163	broad.mit.edu	37	3	137881108	137881108	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:137881108C>T	uc003erv.2	-	8	1394	c.1258G>A	c.(1258-1260)GCT>ACT	p.A420T	DBR1_uc003eru.2_Missense_Mutation_p.A369T|DBR1_uc003ert.2_Missense_Mutation_p.A188T	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	420						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						GAAGACAGAGCAGATGTGTCT	0.378												
ACPL2	92370	broad.mit.edu	37	3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:141011689G>A	uc003etu.2	+	8	1384	c.1085G>A	c.(1084-1086)CGT>CAT	p.R362H	ACPL2_uc003etv.2_Missense_Mutation_p.R362H|ACPL2_uc011bna.1_Missense_Mutation_p.R324H|ACPL2_uc011bnb.1_Missense_Mutation_p.R345H	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	362						extracellular region	acid phosphatase activity			skin(1)	1						CGGATGCAGCGTGCCACCGAG	0.547												
IGSF10	285313	broad.mit.edu	37	3	151162822	151162822	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:151162822C>A	uc011bod.1	-	4	4947	c.4947G>T	c.(4945-4947)AGG>AGT	p.R1649S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1649	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAACTATCCTGGGCTTTT	0.418												
MBNL1	4154	broad.mit.edu	37	3	152018157	152018157	+	Splice_Site	SNP	G	G	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:152018157G>C	uc003ezm.2	+	1	963	c.174_splice	c.e1+1	p.K58_splice	MBNL1_uc003ezh.2_Splice_Site_p.K58_splice|MBNL1_uc003ezi.2_Splice_Site_p.K58_splice|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Splice_Site_p.K58_splice|MBNL1_uc003ezp.2_Splice_Site_p.K58_splice|MBNL1_uc003ezn.2_Splice_Site_p.K58_splice|MBNL1_uc003ezo.2_Splice_Site_p.K58_splice|MBNL1_uc003ezg.1_Splice_Site	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c						embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCATTGAAAGTGAGTAACTA	0.383												
SI	6476	broad.mit.edu	37	3	164764796	164764796	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:164764796C>T	uc003fei.2	-	16	1782	c.1720G>A	c.(1720-1722)GTA>ATA	p.V574I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	574	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTTTTGTACAGCTCTAAAA	0.299										HNSCC(35;0.089)		
SLC2A2	6514	broad.mit.edu	37	3	170716931	170716931	+	Nonsense_Mutation	SNP	G	G	A	rs34066960		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:170716931G>A	uc003fhe.1	-	9	1402	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*	SLC2A2_uc003fhf.1_Nonsense_Mutation_p.R192*|SLC2A2_uc011bpu.1_Nonsense_Mutation_p.R238*	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	365	Cytoplasmic (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGAGAACGTCGCCCTGCCTTC	0.398												
PLD1	5337	broad.mit.edu	37	3	171330147	171330147	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:171330147T>G	uc003fhs.2	-	25	2920	c.2804A>C	c.(2803-2805)GAG>GCG	p.E935A	PLD1_uc003fht.2_Missense_Mutation_p.E897A|PLD1_uc003fhu.3_Missense_Mutation_p.E229A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	935					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGAACAGTCTCTGTATCTTG	0.502												
NAALADL2	254827	broad.mit.edu	37	3	174814908	174814908	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:174814908C>T	uc003fit.2	+	2	459	c.372C>T	c.(370-372)CAC>CAT	p.H124H	NAALADL2_uc003fiu.1_Silent_p.H117H	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	124	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACTTTTGCCACGTCTTAAAAA	0.388												
TBL1XR1	79718	broad.mit.edu	37	3	176769374	176769374	+	Silent	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:176769374T>G	uc003fiw.3	-	5	605	c.345A>C	c.(343-345)GCA>GCC	p.A115A	TBL1XR1_uc003fix.3_Silent_p.A115A|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.A115A	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	115	Poly-Ala.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGGCTGCAGCTGCGGCAGCTG	0.478												
SOX2	6657	broad.mit.edu	37	3	181430501	181430501	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:181430501C>T	uc003fkx.2	+	1	780	c.353C>T	c.(352-354)ACG>ATG	p.T118M	SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	sex-determining region Y-box 2	118					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AAAACCAAGACGCTCATGAAG	0.667			A		NSCLC|oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME					
EIF4G1	1981	broad.mit.edu	37	3	184041274	184041274	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:184041274G>A	uc003fnp.2	+	15	2365	c.2167G>A	c.(2167-2169)GAA>AAA	p.E723K	EIF4G1_uc003fno.1_Missense_Mutation_p.E664K|EIF4G1_uc010hxw.1_Missense_Mutation_p.E559K|EIF4G1_uc003fnt.2_Missense_Mutation_p.E434K|EIF4G1_uc003fnq.2_Missense_Mutation_p.E636K|EIF4G1_uc003fnr.2_Missense_Mutation_p.E559K|EIF4G1_uc010hxx.2_Missense_Mutation_p.E730K|EIF4G1_uc003fns.2_Missense_Mutation_p.E683K|EIF4G1_uc010hxy.2_Missense_Mutation_p.E730K|EIF4G1_uc003fnv.3_Missense_Mutation_p.E724K|EIF4G1_uc003fnu.3_Missense_Mutation_p.E723K|EIF4G1_uc003fnw.2_Missense_Mutation_p.E730K|EIF4G1_uc003fnx.2_Missense_Mutation_p.E528K|EIF4G1_uc003fny.3_Missense_Mutation_p.E527K|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	723	eIF3/EIF4A-binding.|MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTAATGACCGAAGATATAAA	0.542												
GAK	2580	broad.mit.edu	37	4	906522	906522	+	Splice_Site	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:906522C>T	uc003gbm.3	-	3	466	c.267_splice	c.e3+1	p.M89_splice	GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Splice_Site|GAK_uc003gbl.3_5'Flank	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GAAAAGGATACCATGAAGCAA	0.507												
KIAA1530	57654	broad.mit.edu	37	4	1348597	1348597	+	Missense_Mutation	SNP	C	C	T	rs113866137	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:1348597C>T	uc003gde.3	+	6	1456	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	337											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CAAGCTCATCCGGAACAAGTT	0.622												
CPEB2	132864	broad.mit.edu	37	4	15054040	15054040	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:15054040C>T	uc003gni.1	+	6	955	c.868C>T	c.(868-870)CGT>TGT	p.R290C	CPEB2_uc003gnj.1_Missense_Mutation_p.R260C|CPEB2_uc003gnk.1_Missense_Mutation_p.R298C|CPEB2_uc003gnl.1_Missense_Mutation_p.R271C|CPEB2_uc003gnm.1_Missense_Mutation_p.R268C|CPEB2_uc003gnn.1_Missense_Mutation_p.R263C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	290					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						TATTCTAGGTCGTTCTTCCCT	0.333												
GABRA2	2555	broad.mit.edu	37	4	46388118	46388118	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:46388118C>T	uc003gxc.3	-	2	833	c.160G>A	c.(160-162)GAT>AAT	p.D54N	GABRA2_uc010igc.2_Missense_Mutation_p.D54N|GABRA2_uc011bzc.1_Silent_p.T21T|GABRA2_uc003gxe.2_Missense_Mutation_p.D54N|GABRA2_uc010igd.1_Missense_Mutation_p.D54N	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	54	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCCGATTATCGTAACCATCC	0.353												
SLAIN2	57606	broad.mit.edu	37	4	48422433	48422433	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:48422433G>A	uc003gya.3	+	7	1796	c.1652G>A	c.(1651-1653)CGC>CAC	p.R551H		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	551						centrosome					0						CCAGTGCCTCGCAGCAAACTT	0.517												
KIAA1211	57482	broad.mit.edu	37	4	57182333	57182333	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:57182333G>A	uc003hbk.2	+	8	3056	c.2665G>A	c.(2665-2667)GCT>ACT	p.A889T	KIAA1211_uc010iha.2_Missense_Mutation_p.A882T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A799T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A775T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	889										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGCGGGGAGCGCTCGTGGAGA	0.632												
HTN1	3346	broad.mit.edu	37	4	70920041	70920041	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:70920041C>T	uc003hex.2	+	3	121	c.54C>T	c.(52-54)AGC>AGT	p.S18S		NM_002159	NP_002150	P15515	HIS1_HUMAN	histatin 1 precursor	18					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			skin(1)	1						TTTCCAAGAGCGCTGATTCAC	0.229												
ADAMTS3	9508	broad.mit.edu	37	4	73414336	73414336	+	Silent	SNP	G	G	A	rs139575946	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:73414336G>A	uc003hgk.1	-	3	400	c.363C>T	c.(361-363)ACC>ACT	p.T121T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	121					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAATGGGATCGGTTATATTCC	0.473												
ANKRD17	26057	broad.mit.edu	37	4	74124068	74124068	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:74124068A>G	uc003hgp.2	-	1	435	c.318T>C	c.(316-318)GGT>GGC	p.G106G	ANKRD17_uc003hgq.2_Silent_p.G106G|ANKRD17_uc003hgr.2_Silent_p.G106G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	106	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			cgccgccgccacctccgcctc	0.383												
AFF1	4299	broad.mit.edu	37	4	87968290	87968290	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:87968290A>G	uc003hqj.3	+	3	989	c.582A>G	c.(580-582)CCA>CCG	p.P194P	AFF1_uc011ccx.1_Silent_p.P135P|AFF1_uc003hqh.1_Silent_p.P201P|AFF1_uc011ccy.1_Silent_p.P201P|AFF1_uc011ccz.1_Silent_p.P201P|AFF1_uc003hqk.3_Silent_p.P194P|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	194						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATTCGGCTCCAGAGAGGGAGC	0.542												
SMARCAD1	56916	broad.mit.edu	37	4	95129604	95129604	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:95129604C>T	uc003htc.3	+	2	314	c.59C>T	c.(58-60)GCG>GTG	p.A20V	SMARCAD1_uc003htb.3_Missense_Mutation_p.A20V|SMARCAD1_uc003htd.3_Missense_Mutation_p.A20V|SMARCAD1_uc010ila.2_5'UTR	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	20					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATTGAGGAAGCGCCCGAAGCA	0.483												
KIAA1109	84162	broad.mit.edu	37	4	123147974	123147974	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:123147974G>A	uc003ieh.2	+	22	2951	c.2906G>A	c.(2905-2907)CGG>CAG	p.R969Q	KIAA1109_uc003iei.1_Missense_Mutation_p.R722Q|KIAA1109_uc010ins.1_Missense_Mutation_p.R312Q|KIAA1109_uc003iej.1_3'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	969					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATTGATCGTCGGTTCTGTGAA	0.328												
ADAD1	132612	broad.mit.edu	37	4	123329116	123329116	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:123329116G>A	uc003ieo.2	+	8	1010	c.778G>A	c.(778-780)GAC>AAC	p.D260N	ADAD1_uc003iep.2_Missense_Mutation_p.D260N|ADAD1_uc003ieq.2_Missense_Mutation_p.D242N	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	260	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TTACAGCCAGGACATTAAGCC	0.378												
FAT4	79633	broad.mit.edu	37	4	126238488	126238488	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:126238488C>T	uc003ifj.3	+	1	922	c.922C>T	c.(922-924)CGG>TGG	p.R308W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	308	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TATCACGGTGCGGGAGCCCCT	0.667											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126239459	126239459	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:126239459C>T	uc003ifj.3	+	1	1893	c.1893C>T	c.(1891-1893)TCC>TCT	p.S631S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	631	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCGGAGGTCCTTCCGTCTGG	0.552												
PCDH10	57575	broad.mit.edu	37	4	134084242	134084242	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:134084242C>T	uc003iha.2	+	4	3734	c.2908C>T	c.(2908-2910)CGC>TGC	p.R970C		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	970	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCTGATTATCGCAGCAATCT	0.532												
INPP4B	8821	broad.mit.edu	37	4	143094958	143094958	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:143094958C>T	uc003iix.3	-	17	1781	c.1186G>A	c.(1186-1188)GGA>AGA	p.G396R	INPP4B_uc003iiw.3_Missense_Mutation_p.G396R|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.G211R|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.G267R	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	396					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					AACTGGTATCCGGTACTGCAA	0.363												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL							
TRIM2	23321	broad.mit.edu	37	4	154237032	154237032	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:154237032C>T	uc003ing.2	+	8	1783	c.1582C>T	c.(1582-1584)CGC>TGC	p.R528C	TRIM2_uc003inh.2_Missense_Mutation_p.R555C	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	528	NHL 2.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CATACGGGGACGCTCTCCGGG	0.458												
WWC2	80014	broad.mit.edu	37	4	184175073	184175073	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:184175073C>T	uc010irx.2	+	9	1299	c.1117C>T	c.(1117-1119)CGC>TGC	p.R373C	WWC2_uc003ivk.3_Missense_Mutation_p.R168C|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.R55C	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	373	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAATTAGAACGCCTAGAAGC	0.448												
TERT	7015	broad.mit.edu	37	5	1268637	1268637	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:1268637G>A	uc003jcb.1	-	9	2638	c.2580C>T	c.(2578-2580)GAC>GAT	p.D860D	TERT_uc003jbz.1_Silent_p.D56D|TERT_uc003jca.1_Silent_p.D848D|TERT_uc003jcc.1_Silent_p.D860D|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	860	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCTCACCCGTCCCGCCGAA	0.597									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
ADAMTS16	170690	broad.mit.edu	37	5	5239334	5239334	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:5239334A>C	uc003jdl.2	+	15	2363	c.2225A>C	c.(2224-2226)AAC>ACC	p.N742T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.N742T|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	742	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AACGGGAATAACTCAGCCTGC	0.512												
TRIO	7204	broad.mit.edu	37	5	14359556	14359556	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:14359556G>A	uc003jff.2	+	13	2313	c.2307G>A	c.(2305-2307)TCG>TCA	p.S769S	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.S720S|TRIO_uc003jfh.1_Silent_p.S418S	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	769					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGCGCAGTCGCAGATGGAGG	0.612												
ZFR	51663	broad.mit.edu	37	5	32395284	32395284	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:32395284G>A	uc003jhr.1	-	11	2040	c.1960C>T	c.(1960-1962)CGT>TGT	p.R654C	MIR579_hsa-mir-579|MI0003586_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	654					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		ATTCTCCAACGCTCCTCTTCT	0.408												
C5orf42	65250	broad.mit.edu	37	5	37169215	37169215	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:37169215G>A	uc011cpa.1	-	34	7142	c.6911C>T	c.(6910-6912)GCA>GTA	p.A2304V	C5orf42_uc011coy.1_Missense_Mutation_p.A804V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.A1379V|C5orf42_uc003jkr.1_Missense_Mutation_p.A337V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2304										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TACAGTTTCTGCCCACGTCTT	0.393												
CMYA5	202333	broad.mit.edu	37	5	79025504	79025504	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:79025504G>A	uc003kgc.2	+	2	988	c.916G>A	c.(916-918)GCA>ACA	p.A306T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	306						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGGAGAGGCGCACTCTCCAA	0.408												
LNPEP	4012	broad.mit.edu	37	5	96314863	96314863	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:96314863A>C	uc003kmv.1	+	2	555	c.41A>C	c.(40-42)AAT>ACT	p.N14T	LNPEP_uc003kmw.1_5'UTR	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	14	Cytoplasmic (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCCCCAGGAATATGATTGAA	0.383												
SLCO6A1	133482	broad.mit.edu	37	5	101816044	101816044	+	Silent	SNP	G	G	A	rs143064096	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:101816044G>A	uc003knn.2	-	2	625	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y	SLCO6A1_uc003kno.2_Silent_p.Y151Y|SLCO6A1_uc003knp.2_Silent_p.Y151Y|SLCO6A1_uc003knq.2_Silent_p.Y151Y	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	151	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATGAAATATCGTAACTCTTTT	0.358												
EFNA5	1946	broad.mit.edu	37	5	106763050	106763050	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:106763050C>A	uc003kol.2	-	2	568	c.286G>T	c.(286-288)GGG>TGG	p.G96W	EFNA5_uc010jbr.1_Missense_Mutation_p.G96W	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	96					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CTCTTGAACCCTTTGGAAGTG	0.488												
TGFBI	7045	broad.mit.edu	37	5	135388731	135388731	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:135388731C>T	uc003lbf.3	+	8	1210	c.1049C>T	c.(1048-1050)GCG>GTG	p.A350V	TGFBI_uc003lbg.3_Missense_Mutation_p.A83V|TGFBI_uc003lbh.3_Missense_Mutation_p.A176V|TGFBI_uc011cyb.1_Missense_Mutation_p.A176V|TGFBI_uc010jed.2_Missense_Mutation_p.A83V	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	350	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACGGGAAGGCGATCATCTCC	0.587												
PCDHA2	56146	broad.mit.edu	37	5	140176376	140176376	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140176376C>T	uc003lhd.2	+	1	1933	c.1827C>T	c.(1825-1827)TAC>TAT	p.Y609Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.Y609Y|PCDHA2_uc011czy.1_Silent_p.Y609Y	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	609	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTTCGTACGAGCTTCAGC	0.647												
PCDHA10	56139	broad.mit.edu	37	5	140237092	140237092	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140237092G>A	uc003lhx.2	+	1	1459	c.1459G>A	c.(1459-1461)GCC>ACC	p.A487T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A487T|PCDHA10_uc011dad.1_Missense_Mutation_p.A487T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	487	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.657												
PCDHB1	29930	broad.mit.edu	37	5	140431352	140431352	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140431352C>T	uc003lik.1	+	1	374	c.297C>T	c.(295-297)GCC>GCT	p.A99A		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	99	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCAAAGCCGACCCTTGTG	0.522												
PCDHB5	26167	broad.mit.edu	37	5	140515665	140515665	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140515665G>A	uc003liq.2	+	1	866	c.649G>A	c.(649-651)GGT>AGT	p.G217S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	217	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACTGGACGGTGGGGCTCC	0.542												
PCDHB11	56125	broad.mit.edu	37	5	140580109	140580109	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140580109T>G	uc003liy.2	+	1	762	c.762T>G	c.(760-762)AAT>AAG	p.N254K	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	254	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGGAGAATAGCATCCTTG	0.453												
PCDHGA3	56112	broad.mit.edu	37	5	140725805	140725805	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140725805G>A	uc003ljm.1	+	1	2205	c.2205G>A	c.(2203-2205)ACG>ACA	p.T735T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T495T|PCDHGA3_uc011dap.1_Silent_p.T735T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	735	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGAGTACGCCCGGCTCGC	0.672												
HDAC3	8841	broad.mit.edu	37	5	141005843	141005843	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:141005843C>T	uc003llf.2	-	11	904	c.838G>A	c.(838-840)GTT>ATT	p.V280I	HDAC3_uc003lle.1_Missense_Mutation_p.V223I	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	280	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ACATATTCAACGCATTCCCTG	0.378												
PPP2R2B	5521	broad.mit.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:145969658A>C	uc003loe.2	-	9	1709	c.1184T>G	c.(1183-1185)GTG>GGG	p.V395G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	395					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(1)		ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488												
FBXO38	81545	broad.mit.edu	37	5	147807089	147807089	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:147807089G>A	uc003lpf.1	+	15	2352	c.2232G>A	c.(2230-2232)GTG>GTA	p.V744V	FBXO38_uc003lpg.1_Silent_p.V744V|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	744						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACAGAAGTGGATGTGTCCA	0.592												
PPARGC1B	133522	broad.mit.edu	37	5	149225326	149225326	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:149225326C>T	uc003lrc.2	+	11	2862	c.2820C>T	c.(2818-2820)GGC>GGT	p.G940G	PPARGC1B_uc003lrb.1_Silent_p.G940G|PPARGC1B_uc003lrd.2_Silent_p.G901G|PPARGC1B_uc003lrf.2_Silent_p.G919G|PPARGC1B_uc003lre.1_Silent_p.G919G	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	940	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCGCAGAGGCGAGAAGTACG	0.587												
HAVCR1	26762	broad.mit.edu	37	5	156479516	156479516	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:156479516T>C	uc010jij.1	-	4	714	c.529A>G	c.(529-531)ACT>GCT	p.T177A	HAVCR1_uc011ddl.1_Missense_Mutation_p.T8A|HAVCR1_uc003lwi.2_Missense_Mutation_p.T177A|HAVCR1_uc011ddm.1_Missense_Mutation_p.T177A	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	172	Extracellular (Potential).|6.|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGAACAGTCGTTGTCGTT	0.468												
CLINT1	9685	broad.mit.edu	37	5	157214842	157214842	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:157214842C>T	uc003lxj.1	-	12	1880	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	CLINT1_uc003lxg.1_Missense_Mutation_p.A101T|CLINT1_uc003lxh.1_Missense_Mutation_p.A138T|CLINT1_uc003lxi.1_Missense_Mutation_p.A564T|CLINT1_uc011ddv.1_Missense_Mutation_p.A582T	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	564	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	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)			CCAAGAGGGGCCATTCCCATG	0.532												
CCNJL	79616	broad.mit.edu	37	5	159680556	159680556	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:159680556G>A	uc003lyb.1	-	7	1389	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	CCNJL_uc011dee.1_Silent_p.H331H|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	379						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTACGGGGTGTGGAGGGATG	0.632												
EIF4E1B	253314	broad.mit.edu	37	5	176070219	176070219	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:176070219C>T	uc010jkf.1	+	4	736	c.152C>T	c.(151-153)ACG>ATG	p.T51M		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	51					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCCCGGACGGGGGGCCCC	0.353												
NHP2	55651	broad.mit.edu	37	5	177577890	177577890	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:177577890G>A	uc003mir.2	-	3	478	c.335C>T	c.(334-336)ACG>ATG	p.T112M	NHP2_uc003mis.2_Intron	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	112					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						GCTCCTTACCGTCTTAGAGGG	0.473												
RBM24	221662	broad.mit.edu	37	6	17292146	17292146	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:17292146C>T	uc003nbz.3	+	4	511	c.507C>T	c.(505-507)GCC>GCT	p.A169A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A111A|RBM24_uc003nca.2_Silent_p.A124A|RBM24_uc011diy.1_Missense_Mutation_p.P83L|RBM24_uc011diz.1_Missense_Mutation_p.P68L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	169	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgccgccgccgctgctgcCT	0.488												
BTN2A2	10385	broad.mit.edu	37	6	26390936	26390936	+	Splice_Site	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:26390936G>A	uc003nhq.2	+	6	1038	c.952_splice	c.e6+1	p.R318_splice	BTN2A2_uc011dkf.1_3'UTR|BTN2A2_uc011dkg.1_Splice_Site_p.R224_splice|BTN2A2_uc003nhr.2_Splice_Site_p.R202_splice|BTN2A2_uc011dkh.1_Splice_Site_p.R108_splice|BTN2A2_uc003nhs.2_Splice_Site_p.R318_splice|BTN2A2_uc003nht.2_Splice_Site_p.R318_splice|BTN2A2_uc011dki.1_Splice_Site_p.R67_splice	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a						negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						GAAGAATTGCGTAAGTTTAGC	0.388												
ZNF323	64288	broad.mit.edu	37	6	28294178	28294178	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28294178C>A	uc003nla.2	-	4	1386	c.986G>T	c.(985-987)GGG>GTG	p.G329V	ZNF323_uc003nld.2_Missense_Mutation_p.G329V|ZNF323_uc010jra.2_Missense_Mutation_p.G329V|ZNF323_uc003nlb.2_Missense_Mutation_p.G170V|ZNF323_uc010jrb.2_Missense_Mutation_p.G170V|ZNF323_uc003nlc.2_Missense_Mutation_p.G329V	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	329	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAAAGCCTTCCCACACACTTT	0.498												
GPX5	2880	broad.mit.edu	37	6	28497328	28497328	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28497328A>T	uc003nll.2	+	2	190	c.188A>T	c.(187-189)CAC>CTC	p.H63L	GPX5_uc003nlm.2_Missense_Mutation_p.H63L|GPX5_uc003nln.2_RNA	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	63					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	GTGGGCAAGCACATCCTCTTC	0.438												
FLOT1	10211	broad.mit.edu	37	6	30709013	30709013	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:30709013G>A	uc003nrm.2	-	5	472	c.308C>T	c.(307-309)ACG>ATG	p.T103M	FLOT1_uc011dmr.1_Intron	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	103						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						GCCCTCTAACGTCTCCAGGGC	0.587												
BAT2	7916	broad.mit.edu	37	6	31604191	31604191	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31604191C>T	uc003nvb.3	+	26	6079	c.5830C>T	c.(5830-5832)CTT>TTT	p.L1944F	BAT2_uc003nvc.3_Missense_Mutation_p.L1944F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1944	3-1.|3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding				0						CACATCGTTGCTTCAGGTAAG	0.532												
BAT5	7920	broad.mit.edu	37	6	31656035	31656035	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31656035A>G	uc003nvy.1	-	15	1328	c.1298T>C	c.(1297-1299)ATC>ACC	p.I433T	BAT5_uc003nvx.1_Missense_Mutation_p.I214T|BAT5_uc011dny.1_Missense_Mutation_p.I400T|BAT5_uc003nvz.1_Missense_Mutation_p.I214T|BAT5_uc011dnz.1_Missense_Mutation_p.I214T	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	433						integral to membrane	hydrolase activity|protein binding				0						CGTGGTGGTGATGATCTCATC	0.562												
CLIC1	1192	broad.mit.edu	37	6	31698703	31698703	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31698703G>A	uc003nwr.2	-	6	906	c.642C>T	c.(640-642)TAC>TAT	p.Y214Y	DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Silent_p.Y214Y	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	214	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						CTTCCCGGGCGTAGGCATTGC	0.582												
HSPA1A	3303	broad.mit.edu	37	6	31785384	31785384	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31785384C>T	uc003nxj.2	+	1	2094	c.1851C>T	c.(1849-1851)CCC>CCT	p.P617P	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Silent_p.P452P|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	617					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						CCGGTGGTCCCGGGCCTGGGG	0.602												
SKIV2L	6499	broad.mit.edu	37	6	31936192	31936192	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31936192C>T	uc003nyn.1	+	24	3335	c.2946C>T	c.(2944-2946)CTC>CTT	p.L982L	SKIV2L_uc011dou.1_Silent_p.L824L|SKIV2L_uc011dov.1_Silent_p.L789L|STK19_uc003nyt.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	982						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CTCCCACCCTCGACCCTGTCA	0.627												
TAP2	6891	broad.mit.edu	37	6	32782846	32782846	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TGAAGGGTGCGCCCAGCCTGT	0.592												
ITPR3	3710	broad.mit.edu	37	6	33657074	33657074	+	Missense_Mutation	SNP	G	G	T	rs139676554		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:33657074G>T	uc011drk.1	+	50	6973	c.6754G>T	c.(6754-6756)GCG>TCG	p.A2252S	ITPR3_uc003oey.2_Missense_Mutation_p.A339S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2252	Helical; (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CTTCTCCATCGCGGCCCTGTT	0.627												
UHRF1BP1	54887	broad.mit.edu	37	6	34826502	34826502	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:34826502T>C	uc003oju.3	+	14	2603	c.2369T>C	c.(2368-2370)GTC>GCC	p.V790A	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	790										ovary(3)	3						CTTACAGAAGTCATGGAAATT	0.483												
MAPK13	5603	broad.mit.edu	37	6	36106833	36106833	+	Splice_Site	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:36106833G>A	uc003ols.2	+	11	1116	c.1018_splice	c.e11+1	p.Q340_splice	MAPK13_uc003olt.2_Splice_Site	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13						cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						GAATGGAAGCGTAAGAGCTGG	0.582												
PRPH2	5961	broad.mit.edu	37	6	42666224	42666224	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:42666224G>A	uc003osk.2	-	3	1136	c.850C>T	c.(850-852)CGC>TGC	p.R284C		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	284	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAGGTAGCGCAGCCCAATT	0.587												
MRPL2	51069	broad.mit.edu	37	6	43022174	43022174	+	Silent	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:43022174A>G	uc003ots.1	-	7	879	c.756T>C	c.(754-756)CAT>CAC	p.H252H	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	252					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CCCGTTTGTTATGATCAACGT	0.567												
RHAG	6005	broad.mit.edu	37	6	49578748	49578748	+	Silent	SNP	G	G	A	rs150024430		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:49578748G>A	uc003ozk.3	-	7	1118	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G	RHAG_uc010jzl.2_Silent_p.G352G|RHAG_uc010jzm.2_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	352	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					TGTTGGAGGCGCCCATTGCTA	0.488												
FAM83B	222584	broad.mit.edu	37	6	54735391	54735391	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:54735391T>C	uc003pck.2	+	2	463	c.347T>C	c.(346-348)TTA>TCA	p.L116S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	116										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CCCGGACTCTTAGGGGGCACC	0.438												
DDX43	55510	broad.mit.edu	37	6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:74124393C>T	uc003pgw.2	+	14	2073	c.1729C>T	c.(1729-1731)CGC>TGC	p.R577C		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CCGAATAGGGCGCACGGGAAG	0.428												
COL12A1	1303	broad.mit.edu	37	6	75827179	75827179	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:75827179C>T	uc003phs.2	-	47	7604	c.7438G>A	c.(7438-7440)GTG>ATG	p.V2480M	COL12A1_uc003pht.2_Missense_Mutation_p.V1316M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2480	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACAATGAACACGTGCCGTTCA	0.418												
FILIP1	27145	broad.mit.edu	37	6	76022525	76022525	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:76022525T>C	uc003pia.2	-	5	3396	c.3023A>G	c.(3022-3024)CAG>CGG	p.Q1008R	FILIP1_uc003phy.1_Missense_Mutation_p.Q1008R|FILIP1_uc003phz.2_Missense_Mutation_p.Q909R|FILIP1_uc010kbe.2_Missense_Mutation_p.Q1011R|FILIP1_uc003pib.1_Missense_Mutation_p.Q760R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1008										skin(3)|ovary(1)	4						CGTCATTATCTGAATAGGGGA	0.507												
TTK	7272	broad.mit.edu	37	6	80723018	80723018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:80723018C>T	uc003pjc.2	+	9	993	c.919C>T	c.(919-921)CGA>TGA	p.R307*	TTK_uc003pjb.3_Nonsense_Mutation_p.R307*	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	307					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATCAGAATGCCGAGATTTGGT	0.269												
KIAA1009	22832	broad.mit.edu	37	6	84865121	84865121	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:84865121A>T	uc010kbp.2	-	22	2987	c.2890T>A	c.(2890-2892)TTT>ATT	p.F964I	KIAA1009_uc003pkj.3_Missense_Mutation_p.F888I|KIAA1009_uc003pki.3_Missense_Mutation_p.F350I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	964	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTCCATAAATTCCACTGTA	0.383												
TBX18	9096	broad.mit.edu	37	6	85466569	85466569	+	Silent	SNP	C	C	T	rs150088516		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:85466569C>T	uc003pkl.1	-	4	618	c.618G>A	c.(616-618)TCG>TCA	p.S206S	TBX18_uc010kbq.1_Silent_p.S48S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	206	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCATCCATTTCGAACTGTGGT	0.488												
C6orf165	154313	broad.mit.edu	37	6	88125515	88125515	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:88125515G>A	uc003plv.2	+	5	487	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.R132Q	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	132										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGCCTCTACCGGAAGATTATC	0.438												
MDN1	23195	broad.mit.edu	37	6	90422427	90422427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:90422427C>A	uc003pnn.1	-	48	7413	c.7297G>T	c.(7297-7299)GGA>TGA	p.G2433*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2433					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G2433V(1)		ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCCACAGTCCCATGCCAAGA	0.458												
CCNC	892	broad.mit.edu	37	6	99993014	99993014	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:99993014C>T	uc003pqe.2	-	11	1058	c.771G>A	c.(769-771)ATG>ATA	p.M257I	uc003pqc.2_Intron|CCNC_uc003pqd.2_Missense_Mutation_p.M172I|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.M256I|CCNC_uc011eah.1_Missense_Mutation_p.M172I	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	257					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTGGTTTTGGCATCTTACTAA	0.299												
SIM1	6492	broad.mit.edu	37	6	100901670	100901670	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:100901670C>T	uc003pqj.3	-	2	433	c.226G>A	c.(226-228)GTT>ATT	p.V76I	SIM1_uc010kcu.2_Missense_Mutation_p.V76I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	76					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTCGGCCAACGTTGTCCAGG	0.617												
TRAF3IP2	10758	broad.mit.edu	37	6	111901440	111901440	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:111901440C>T	uc011ebc.1	-	4	1597	c.982G>A	c.(982-984)GCA>ACA	p.A328T	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.A328T|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.A328T|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.A328T|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.A328T	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	337					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCTCTCTGTGCGGGCCTCTCT	0.567												
LAMA4	3910	broad.mit.edu	37	6	112463468	112463468	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:112463468G>A	uc003pvu.2	-	20	2829	c.2520C>T	c.(2518-2520)GGC>GGT	p.G840G	LAMA4_uc003pvv.2_Silent_p.G833G|LAMA4_uc003pvt.2_Silent_p.G833G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	840	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGCTGACTGGCCATCAAACA	0.502												
HEY2	23493	broad.mit.edu	37	6	126080338	126080338	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:126080338G>A	uc003qad.2	+	5	595	c.404G>A	c.(403-405)CGG>CAG	p.R135Q	HEY2_uc011ebr.1_Missense_Mutation_p.R89Q	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	135	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAAGTTGCGCGGTACCTGAGC	0.592												
HEY2	23493	broad.mit.edu	37	6	126080601	126080601	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:126080601G>A	uc003qad.2	+	5	858	c.667G>A	c.(667-669)GGC>AGC	p.G223S	HEY2_uc011ebr.1_Missense_Mutation_p.G177S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	223					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCTGCCCACGGCTCTGCTCT	0.662												
AKAP7	9465	broad.mit.edu	37	6	131540894	131540894	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:131540894C>T	uc003qck.2	+	7	829	c.796C>T	c.(796-798)CTG>TTG	p.L266L	AKAP7_uc011ebz.1_Silent_p.L244L|AKAP7_uc003qcl.1_Silent_p.L147L	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTGCTCCATGCTGAAGAAAAA	0.264												
MAP7	9053	broad.mit.edu	37	6	136698932	136698932	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:136698932C>T	uc003qgz.2	-	7	958	c.712G>A	c.(712-714)GCC>ACC	p.A238T	MAP7_uc011edf.1_Missense_Mutation_p.A223T|MAP7_uc011edg.1_Missense_Mutation_p.A260T|MAP7_uc010kgu.2_Missense_Mutation_p.A260T|MAP7_uc011edh.1_Missense_Mutation_p.A223T|MAP7_uc010kgv.2_Missense_Mutation_p.A260T|MAP7_uc010kgs.2_Missense_Mutation_p.A92T|MAP7_uc011edi.1_Missense_Mutation_p.A92T|MAP7_uc010kgq.1_Missense_Mutation_p.A144T|MAP7_uc003qha.1_Missense_Mutation_p.A201T|MAP7_uc010kgr.2_Missense_Mutation_p.A92T|MAP7_uc010kgt.2_Missense_Mutation_p.A260T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	238					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTACTTCTGGCCAGGAACGAA	0.527												
FUCA2	2519	broad.mit.edu	37	6	143823103	143823103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:143823103G>A	uc003qjm.2	-	5	1212	c.1120C>T	c.(1120-1122)CGA>TGA	p.R374*	FUCA2_uc003qjn.2_Nonsense_Mutation_p.R128*	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	374					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTCTGGGATCGCCAGGTATGG	0.403												
UTRN	7402	broad.mit.edu	37	6	144757114	144757114	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:144757114C>T	uc003qkt.2	+	9	991	c.899C>T	c.(898-900)ACT>ATT	p.T300I	UTRN_uc010khq.1_Missense_Mutation_p.T300I	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	300	Interaction with SYNM.|Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGAGCTGAAACTCCCAGCACT	0.498												
STXBP5	134957	broad.mit.edu	37	6	147635458	147635458	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:147635458T>G	uc003qlz.2	+	13	1513	c.1352T>G	c.(1351-1353)ATT>AGT	p.I451S	STXBP5_uc010khz.1_Missense_Mutation_p.I451S|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.I122S	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	451	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCAGAAATAATTATTACAGGG	0.358												
PLEKHG1	57480	broad.mit.edu	37	6	151152245	151152245	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:151152245T>C	uc003qny.1	+	16	2310	c.1998T>C	c.(1996-1998)TAT>TAC	p.Y666Y	PLEKHG1_uc011eel.1_Silent_p.Y706Y|PLEKHG1_uc011eem.1_Silent_p.Y725Y|PLEKHG1_uc003qnz.2_Silent_p.Y666Y	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	666					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACATCAGTTATGAGGACTTAA	0.478												
C6orf97	80129	broad.mit.edu	37	6	151917593	151917593	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:151917593G>A	uc003qol.2	+	9	1680	c.1591G>A	c.(1591-1593)GCG>ACG	p.A531T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	531	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GAGGGACAACGCGCATCTTAC	0.552												
SYNE1	23345	broad.mit.edu	37	6	152443751	152443751	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:152443751G>A	uc010kiw.2	-	146	26816	c.26214C>T	c.(26212-26214)CGC>CGT	p.R8738R	SYNE1_uc010kiv.2_Silent_p.R3262R|SYNE1_uc003qos.3_Silent_p.R3262R|SYNE1_uc003qot.3_Silent_p.R8690R|SYNE1_uc003qou.3_Silent_p.R8738R|SYNE1_uc003qop.3_Silent_p.R923R|SYNE1_uc011eez.1_3'UTR|SYNE1_uc003qoq.3_3'UTR|SYNE1_uc003qor.3_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8738	Cytoplasmic (Potential).|KASH.				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)		ACAGGAAGCCGCGGCCGGACC	0.557										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152673328	152673328	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:152673328C>T	uc010kiw.2	-	70	12016	c.11414G>A	c.(11413-11415)CGG>CAG	p.R3805Q	SYNE1_uc003qot.3_Missense_Mutation_p.R3790Q|SYNE1_uc003qou.3_Missense_Mutation_p.R3805Q|SYNE1_uc010kja.1_Missense_Mutation_p.R510Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3805	Cytoplasmic (Potential).|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)		GTGTTCTTTCCGGACAGTGCT	0.443										HNSCC(10;0.0054)		
SNX9	51429	broad.mit.edu	37	6	158296187	158296187	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158296187G>A	uc003qqv.1	+	4	452	c.279G>A	c.(277-279)TCG>TCA	p.S93S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	93					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CCAGTTCGTCGGCTGCCAGCA	0.488												
SYNJ2	8871	broad.mit.edu	37	6	158516963	158516963	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158516963G>A	uc003qqx.1	+	27	4133	c.4058G>A	c.(4057-4059)AGC>AAC	p.S1353N	SYNJ2_uc003qqy.1_Missense_Mutation_p.S1066N|SYNJ2_uc003qqz.1_Missense_Mutation_p.S970N|SYNJ2_uc003qra.1_Missense_Mutation_p.S696N|SYNJ2_uc010kjp.1_Missense_Mutation_p.S236N	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1353	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGAGCAACAGCCAGCTTCTC	0.642												
TULP4	56995	broad.mit.edu	37	6	158873233	158873233	+	Silent	SNP	G	G	A	rs139615407		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158873233G>A	uc003qrf.2	+	5	2149	c.792G>A	c.(790-792)TCG>TCA	p.S264S	TULP4_uc011efo.1_Silent_p.S264S|TULP4_uc003qrg.2_Silent_p.S264S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	264					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTTCACCTCGGGAGACATCA	0.537												
PNLDC1	154197	broad.mit.edu	37	6	160225038	160225038	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:160225038C>T	uc003qsx.1	+	5	428	c.257C>T	c.(256-258)ACG>ATG	p.T86M	PNLDC1_uc003qsy.1_Missense_Mutation_p.T97M	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	86	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCCTACAACGTTTGGGATT	0.393												
IQCE	23288	broad.mit.edu	37	7	2611882	2611882	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:2611882G>A	uc003smo.3	+	5	500	c.316G>A	c.(316-318)GTC>ATC	p.V106I	IQCE_uc010ksm.1_Missense_Mutation_p.V106I|IQCE_uc003sml.1_Missense_Mutation_p.V106I|IQCE_uc011jvy.1_Missense_Mutation_p.V90I|IQCE_uc011jvz.1_Missense_Mutation_p.V41I|IQCE_uc003smk.3_Missense_Mutation_p.V90I|IQCE_uc003smn.3_Missense_Mutation_p.V41I	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	106											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GTGGACTGGCGTCCCCGGCGG	0.577												
C7orf31	136895	broad.mit.edu	37	7	25182374	25182374	+	Silent	SNP	G	G	A	rs139391560		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:25182374G>A	uc003sxn.1	-	8	1305	c.744C>T	c.(742-744)TTC>TTT	p.F248F	C7orf31_uc003sxm.1_Silent_p.F90F	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	248											0						TGTTAGGAGCGAAGGTTTTAG	0.393												
ELMO1	9844	broad.mit.edu	37	7	37382358	37382358	+	Translation_Start_Site	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:37382358G>A	uc003tfk.1	-	2	244	c.-63C>T	c.(-65--61)CACGT>CATGT		ELMO1_uc010kxg.1_Translation_Start_Site	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ACGGCCACACGTGTCTATACC	0.483												
POU6F2	11281	broad.mit.edu	37	7	39504052	39504052	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:39504052A>G	uc003thb.1	+	10	1885	c.1843A>G	c.(1843-1845)ACA>GCA	p.T615A		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	615	Homeobox (By similarity).				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CACCTCCTTCACACCCCAGGC	0.552												
IKZF1	10320	broad.mit.edu	37	7	50468286	50468286	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:50468286G>A	uc003tow.3	+	9	1689	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	IKZF1_uc003tox.3_Silent_p.S465S|IKZF1_uc003toy.3_Silent_p.S465S|IKZF1_uc011kck.1_Silent_p.S420S|IKZF1_uc003toz.3_Silent_p.S477S|IKZF1_uc010kyx.2_Silent_p.S247S|IKZF1_uc003tpa.3_Silent_p.S249S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	507	C2H2-type 6.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.S507*(1)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGTTCTCGTCGCACATAACGC	0.617			D		ALL							
POR	5447	broad.mit.edu	37	7	75614213	75614213	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:75614213C>T	uc003udy.2	+	11	1267	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	POR_uc011kgc.1_Silent_p.Y203Y|POR_uc011kgd.1_Silent_p.Y294Y|POR_uc011kge.1_Silent_p.Y133Y|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	392	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TGGCGCAGTACGCCTCGGAGC	0.687												
PCLO	27445	broad.mit.edu	37	7	82586142	82586142	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:82586142T>C	uc003uhx.2	-	5	4416	c.4127A>G	c.(4126-4128)GAA>GGA	p.E1376G	PCLO_uc003uhv.2_Missense_Mutation_p.E1376G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1307					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTTGGAATTTCACCAAGTGA	0.448												
ABCB1	5243	broad.mit.edu	37	7	87160719	87160719	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:87160719A>C	uc003uiz.1	-	22	2994	c.2576T>G	c.(2575-2577)CTG>CGG	p.L859R	ABCB1_uc011khc.1_Missense_Mutation_p.L795R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	859	ABC transmembrane type-1 2.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TAAGAGTAACAGTGTTAGTTG	0.383												
ZNF804B	219578	broad.mit.edu	37	7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:88964976G>A	uc011khi.1	+	4	3218	c.2680G>A	c.(2680-2682)GGG>AGG	p.G894R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	894						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438										HNSCC(36;0.09)		
TMEM130	222865	broad.mit.edu	37	7	98460917	98460917	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:98460917G>A	uc003upo.2	-	2	381	c.192C>T	c.(190-192)CCC>CCT	p.P64P	TMEM130_uc011kiq.1_Silent_p.P45P|TMEM130_uc011kir.1_Silent_p.P64P|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	64	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGTCAGCGGGCAGGGCCA	0.642												
LRCH4	4034	broad.mit.edu	37	7	100179467	100179467	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:100179467T>C	uc003uvj.2	-	4	584	c.531A>G	c.(529-531)GAA>GAG	p.E177E	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	177	LRR 6.				nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCACACAGTTCCGAGGGCA	0.602												
MUC17	140453	broad.mit.edu	37	7	100678207	100678207	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:100678207G>A	uc003uxp.1	+	3	3563	c.3510G>A	c.(3508-3510)ACG>ACA	p.T1170T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1170	Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGGTCA	0.522												
CUX1	1523	broad.mit.edu	37	7	101559408	101559408	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:101559408C>T	uc003uyx.3	+	2	82	c.44C>T	c.(43-45)GCC>GTC	p.A15V	CUX1_uc003uys.3_Missense_Mutation_p.A26V|CUX1_uc003uyt.2_Missense_Mutation_p.A26V|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Missense_Mutation_p.A26V|CUX1_uc003uyv.2_Missense_Mutation_p.A26V|CUX1_uc003uyu.2_Missense_Mutation_p.A26V	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	15	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAACTCGATGCCACCGCAACG	0.498												
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:111386404G>A	uc003vfx.2	-	43	4905	c.4636C>T	c.(4636-4638)CTG>TTG	p.L1546L	DOCK4_uc011kml.1_Silent_p.L427L|DOCK4_uc011kmm.1_Silent_p.L453L|DOCK4_uc003vfw.2_Silent_p.L996L|DOCK4_uc003vfy.2_Silent_p.L1591L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448												
PPP1R3A	5506	broad.mit.edu	37	7	113518466	113518466	+	Missense_Mutation	SNP	G	G	A	rs140543337		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:113518466G>A	uc010ljy.1	-	4	2712	c.2681C>T	c.(2680-2682)TCG>TTG	p.S894L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	894					glycogen metabolic process	integral to membrane		p.S894W(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATGGCATCCGAGTCTGTTTT	0.368												
RNF133	168433	broad.mit.edu	37	7	122338188	122338188	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:122338188C>T	uc003vkj.1	-	1	1021	c.785G>A	c.(784-786)CGC>CAC	p.R262H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262	RING-type; atypical.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						AGGCTTATAGCGTTCAAAGCA	0.403												
SLC13A1	6561	broad.mit.edu	37	7	122763254	122763254	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:122763254C>T	uc003vkm.2	-	12	1301	c.1276G>A	c.(1276-1278)GAA>AAA	p.E426K	SLC13A1_uc010lks.2_Missense_Mutation_p.E302K	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	426						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GACTGGAATTCTTTCCAAGTA	0.383												
SND1	27044	broad.mit.edu	37	7	127721553	127721553	+	Missense_Mutation	SNP	G	G	A	rs148285818		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:127721553G>A	uc003vmi.2	+	18	2336	c.2110G>A	c.(2110-2112)GGC>AGC	p.G704S	SND1_uc010lle.2_Missense_Mutation_p.G357S|MIR593_hsa-mir-593|MI0003605_5'Flank	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	704					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TGTGGAGACCGGTGAGTGCTC	0.617												
NUP205	23165	broad.mit.edu	37	7	135263559	135263559	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:135263559G>A	uc003vsw.2	+	7	969	c.938G>A	c.(937-939)CGT>CAT	p.R313H	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	313					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATTCACTCTCGTCTTCAGGAC	0.458												
CHRM2	1129	broad.mit.edu	37	7	136699719	136699719	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:136699719T>C	uc003vtf.1	+	4	730	c.107T>C	c.(106-108)GTG>GCG	p.V36A	CHRM2_uc003vtg.1_Missense_Mutation_p.V36A|CHRM2_uc003vtj.1_Missense_Mutation_p.V36A|CHRM2_uc003vtk.1_Missense_Mutation_p.V36A|CHRM2_uc003vtl.1_Missense_Mutation_p.V36A|CHRM2_uc003vtm.1_Missense_Mutation_p.V36A|CHRM2_uc003vti.1_Missense_Mutation_p.V36A|CHRM2_uc003vto.1_Missense_Mutation_p.V36A|CHRM2_uc003vtn.1_Missense_Mutation_p.V36A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	36	Helical; Name=1; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTCAGTTTGGTGACCATTATC	0.443												
BRAF	673	broad.mit.edu	37	7	140454026	140454026	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:140454026G>C	uc003vwc.3	-	14	1763	c.1702C>G	c.(1702-1704)CAC>GAC	p.H568D		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	568	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACTTGGCGTGTAAGTAACTG	0.383		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
OR2A25	392138	broad.mit.edu	37	7	143771747	143771747	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:143771747G>A	uc011ktx.1	+	1	435	c.435G>A	c.(433-435)TTG>TTA	p.L145L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CTTTGGCATTGACTTCCTGGA	0.478												
CNTNAP2	26047	broad.mit.edu	37	7	147092865	147092865	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:147092865A>G	uc003weu.1	+	10	2179	c.1663A>G	c.(1663-1665)ATA>GTA	p.I555V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	555	EGF-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGTGCGATCATAGACAGGTA	0.418										HNSCC(39;0.1)		
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:149462850C>T	uc003wgd.2	-	5	882	c.741G>A	c.(739-741)GCG>GCA	p.A247A	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677												
ZNF862	643641	broad.mit.edu	37	7	149557637	149557637	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:149557637G>A	uc010lpn.2	+	7	1580	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	463	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TACAGGCCCCGTTCCATTCAG	0.527												
EN2	2020	broad.mit.edu	37	7	155251746	155251746	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:155251746G>A	uc003wmb.2	+	1	923	c.674G>A	c.(673-675)CGG>CAG	p.R225Q		NM_001427	NP_001418	P19622	HME2_HUMAN	engrailed homeobox 2	225						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACTCGGACCGGCCTTCTTCA	0.741												
RBM33	155435	broad.mit.edu	37	7	155473489	155473489	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:155473489G>A	uc010lqk.1	+	5	822	c.454G>A	c.(454-456)GAA>AAA	p.E152K	RBM33_uc003wme.2_Missense_Mutation_p.E152K	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	152	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGAAGGCCACGAAGCTGAGTT	0.418												
DLGAP2	9228	broad.mit.edu	37	8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	rs34274599		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:1626408G>A	uc003wpl.2	+	9	2174	c.2077G>A	c.(2077-2079)GTC>ATC	p.V693I	DLGAP2_uc003wpm.2_Missense_Mutation_p.V679I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	772					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)		TTCTAACAGCGTCACGGCCGC	0.557												
ARHGEF10	9639	broad.mit.edu	37	8	1871717	1871717	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:1871717G>A	uc003wpr.2	+	20	2521	c.2343G>A	c.(2341-2343)GCG>GCA	p.A781A	ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.2_Silent_p.A743A|ARHGEF10_uc003wpv.2_Silent_p.A514A|ARHGEF10_uc010lre.2_Silent_p.A461A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	806					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGAGCTGCGGACTGCTGCA	0.418												
CSMD1	64478	broad.mit.edu	37	8	3263606	3263606	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:3263606T>C	uc011kwk.1	-	15	2602	c.2212A>G	c.(2212-2214)ACC>GCC	p.T738A	CSMD1_uc011kwj.1_Missense_Mutation_p.T130A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	738	Sushi 4.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTATGCAGGTAATGGACTCG	0.547												
TUSC3	7991	broad.mit.edu	37	8	15480704	15480704	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:15480704C>G	uc003wwt.2	+	2	464	c.254C>G	c.(253-255)TCC>TGC	p.S85C	TUSC3_uc003wwr.2_Missense_Mutation_p.S85C|TUSC3_uc003wws.2_Missense_Mutation_p.S85C|TUSC3_uc003wwu.2_Missense_Mutation_p.S85C|TUSC3_uc003wwv.2_Missense_Mutation_p.S85C|TUSC3_uc003www.2_Missense_Mutation_p.S85C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.S85C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	85					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		CGAAACTATTCCATGATTGTT	0.358												
PSD3	23362	broad.mit.edu	37	8	18729842	18729842	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:18729842G>A	uc003wza.2	-	3	635	c.532C>T	c.(532-534)CGT>TGT	p.R178C		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	178					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGTGTTTTACGACTGGCAGTG	0.413												
KIAA1967	57805	broad.mit.edu	37	8	22476454	22476454	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:22476454T>C	uc003xch.2	+	19	2584	c.2447T>C	c.(2446-2448)CTG>CCG	p.L816P	KIAA1967_uc003xci.2_Missense_Mutation_p.L816P|KIAA1967_uc003xcj.1_Missense_Mutation_p.L485P	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	816					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGAGCCTGCTGCAGCGCGCG	0.632												
ADAM28	10863	broad.mit.edu	37	8	24188772	24188772	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:24188772A>G	uc003xdy.2	+	12	1296	c.1213A>G	c.(1213-1215)ATA>GTA	p.I405V	ADAM28_uc003xdx.2_Missense_Mutation_p.I405V|ADAM28_uc011kzz.1_Missense_Mutation_p.I172V|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.I92V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	405	Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TACAGATATCATATCCACTCC	0.423												
ADAMDEC1	27299	broad.mit.edu	37	8	24249886	24249886	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:24249886G>A	uc003xdz.2	+	2	420	c.200G>A	c.(199-201)GGC>GAC	p.G67D	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_Intron	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	67					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAAAGCATGGCAAAGAGGTA	0.363												
EPHX2	2053	broad.mit.edu	37	8	27373847	27373847	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:27373847T>A	uc003xfu.2	+	8	923	c.842T>A	c.(841-843)CTG>CAG	p.L281Q	EPHX2_uc010lut.1_Missense_Mutation_p.L281Q|EPHX2_uc010luu.2_Missense_Mutation_p.L249Q|EPHX2_uc010luv.2_Missense_Mutation_p.L215Q|EPHX2_uc003xfv.2_Missense_Mutation_p.L228Q|EPHX2_uc010luw.2_Missense_Mutation_p.L215Q|EPHX2_uc011lam.1_Missense_Mutation_p.L137Q	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	281	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ATCCCTGCTCTGGCCCAGGCA	0.547											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ELP3	55140	broad.mit.edu	37	8	27995410	27995410	+	Splice_Site	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:27995410T>C	uc003xgo.3	+	10	1248	c.1100_splice	c.e10+2	p.R367_splice	ELP3_uc003xgn.3_Splice_Site_p.R352_splice|ELP3_uc011laq.1_Splice_Site_p.R295_splice|ELP3_uc011lar.1_Splice_Site_p.R275_splice|ELP3_uc011las.1_Splice_Site_p.R248_splice|ELP3_uc011lat.1_Splice_Site_p.R248_splice	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGTACAGAGGTAGTGTGTTAT	0.408												
WRN	7486	broad.mit.edu	37	8	30924662	30924662	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:30924662T>C	uc003xio.3	+	6	1406	c.618T>C	c.(616-618)ACT>ACC	p.T206T		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	206	Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCCTCTCACTGAGGACCAGA	0.378			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
KCNU1	157855	broad.mit.edu	37	8	36664916	36664916	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:36664916C>T	uc010lvw.2	+	6	691	c.604C>T	c.(604-606)CGC>TGC	p.R202C	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	202	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGAGCCTTGCGCCTGCTAGA	0.448												
GPR124	25960	broad.mit.edu	37	8	37696570	37696570	+	Missense_Mutation	SNP	G	G	A	rs139221615	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:37696570G>A	uc003xkj.2	+	15	2719	c.2356G>A	c.(2356-2358)GCC>ACC	p.A786T	GPR124_uc010lvy.2_Missense_Mutation_p.A569T	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	786	Helical; Name=1; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCCTCTTCGCCACCATCAT	0.677												
ANK1	286	broad.mit.edu	37	8	41550383	41550383	+	Missense_Mutation	SNP	G	G	A	rs34727075	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:41550383G>A	uc003xok.2	-	31	3725	c.3641C>T	c.(3640-3642)TCG>TTG	p.S1214L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S530L|ANK1_uc003xoi.2_Missense_Mutation_p.S1214L|ANK1_uc003xoj.2_Missense_Mutation_p.S1214L|ANK1_uc003xol.2_Missense_Mutation_p.S1214L|ANK1_uc003xom.2_Missense_Mutation_p.S1255L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1214					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACAGTCCGACAGCCAAAA	0.532												
PLAT	5327	broad.mit.edu	37	8	42039487	42039487	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:42039487A>G	uc003xos.2	-	9	1066	c.857T>C	c.(856-858)CTG>CCG	p.L286P	PLAT_uc010lxf.1_Missense_Mutation_p.L203P|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.L240P|PLAT_uc011lcm.1_Missense_Mutation_p.L197P|PLAT_uc011lcn.1_Missense_Mutation_p.L160P	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	286	Kringle 2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCCCACGTCAGCCTGCGGTT	0.532												
HOOK3	84376	broad.mit.edu	37	8	42828542	42828542	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:42828542C>T	uc003xpr.2	+	12	1475	c.1233C>T	c.(1231-1233)GAC>GAT	p.D411D	HOOK3_uc010lxq.1_Silent_p.D411D	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	411	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGAAAAGGACGTGAGTATAT	0.299			T	RET	papillary thyroid							
KIAA0146	23514	broad.mit.edu	37	8	48625311	48625311	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:48625311A>G	uc003xqd.2	+	15	2074	c.2065A>G	c.(2065-2067)AGG>GGG	p.R689G	KIAA0146_uc011ldb.1_Missense_Mutation_p.R689G|KIAA0146_uc010lxs.2_Missense_Mutation_p.R164G|KIAA0146_uc011ldc.1_Missense_Mutation_p.R619G|KIAA0146_uc011ldd.1_Missense_Mutation_p.R629G|KIAA0146_uc003xqe.2_Missense_Mutation_p.R164G|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R378G|KIAA0146_uc010lxt.2_Missense_Mutation_p.R378G|KIAA0146_uc011ldf.1_Missense_Mutation_p.R194G|KIAA0146_uc011ldg.1_Missense_Mutation_p.R179G|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	689											0		Lung NSC(58;0.175)				GAGAGACCCCAGGCTCCCCAA	0.572												
EFCAB1	79645	broad.mit.edu	37	8	49647703	49647703	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:49647703C>T	uc003xqo.2	-	1	168	c.8G>A	c.(7-9)CGC>CAC	p.R3H	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.R3H|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	3							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGTTTCTTGCGGTTCATGTC	0.622												
CHD7	55636	broad.mit.edu	37	8	61655342	61655342	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:61655342G>A	uc003xue.2	+	2	1828	c.1351G>A	c.(1351-1353)GGC>AGC	p.G451S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	451	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGGAATATGGGCCCCAGAAA	0.537												
ADHFE1	137872	broad.mit.edu	37	8	67352398	67352398	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:67352398T>C	uc003xwb.3	+	2	95	c.61T>C	c.(61-63)TGC>CGC	p.C21R	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_5'UTR|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Intron|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	21					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTTCCCTAGGTGCCAGTGCCC	0.353												
ARFGEF1	10565	broad.mit.edu	37	8	68204129	68204129	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:68204129C>G	uc003xxo.1	-	6	1259	c.869G>C	c.(868-870)AGT>ACT	p.S290T		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	290					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTTTCTGCACTGGAAATATC	0.428												
XKR9	389668	broad.mit.edu	37	8	71646526	71646526	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:71646526T>C	uc003xyq.2	+	5	1523	c.989T>C	c.(988-990)CTT>CCT	p.L330P	XKR9_uc010lze.2_Missense_Mutation_p.L330P|XKR9_uc010lzd.2_Missense_Mutation_p.L198P	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	330	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTACTCTTCTTCTTGGAATT	0.343												
TERF1	7013	broad.mit.edu	37	8	73958323	73958323	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:73958323G>T	uc003xzd.2	+	10	1296	c.1271G>T	c.(1270-1272)TGG>TTG	p.W424L	TERF1_uc003xze.2_Missense_Mutation_p.W404L	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	424	H-T-H motif.|HTH myb-type.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			AAAGACAGATGGAGGACCATG	0.383												
RDH10	157506	broad.mit.edu	37	8	74209656	74209656	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:74209656C>T	uc003xzi.2	+	2	777	c.517C>T	c.(517-519)CAC>TAC	p.H173Y	RDH10_uc003xzj.2_Missense_Mutation_p.H8Y	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	173					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TTGCCATGCACACTTCTGGGT	0.483												
FAM164A	51101	broad.mit.edu	37	8	79629711	79629711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:79629711C>T	uc003ybd.2	+	9	1063	c.961C>T	c.(961-963)CGA>TGA	p.R321*		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	321										ovary(1)	1						ATGTGGCATTCGAAGAATGAT	0.378												
SLC26A7	115111	broad.mit.edu	37	8	92346557	92346557	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:92346557T>C	uc003yex.2	+	7	955	c.677T>C	c.(676-678)GTG>GCG	p.V226A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V226A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V226A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	226	Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATCAAGTCTGTGCGACTGGAA	0.318												
MTERFD1	51001	broad.mit.edu	37	8	97269296	97269296	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:97269296C>A	uc003yhs.1	-	3	459	c.381G>T	c.(379-381)GAG>GAT	p.E127D	MTERFD1_uc003yhr.1_Missense_Mutation_p.E6D|MTERFD1_uc010mbd.1_Missense_Mutation_p.E127D	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	127					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					TAGCCTCTTCCTCTGAAATTG	0.413												
VPS13B	157680	broad.mit.edu	37	8	100883725	100883725	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:100883725G>A	uc003yiv.2	+	61	11731	c.11620G>A	c.(11620-11622)GTG>ATG	p.V3874M	VPS13B_uc003yiw.2_Missense_Mutation_p.V3849M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3874					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGCCCTGGACGTGGTTCTGGT	0.547												
VPS13B	157680	broad.mit.edu	37	8	100883773	100883773	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:100883773C>T	uc003yiv.2	+	61	11779	c.11668C>T	c.(11668-11670)CTG>TTG	p.L3890L	VPS13B_uc003yiw.2_Silent_p.L3865L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3890					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCTTGCTGCTGACATCAGA	0.567												
CSMD3	114788	broad.mit.edu	37	8	113516058	113516058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:113516058C>A	uc003ynu.2	-	30	5203	c.5044G>T	c.(5044-5046)GGA>TGA	p.G1682*	CSMD3_uc003yns.2_Nonsense_Mutation_p.G954*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1642*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1578*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1682	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTAACAGATCCATCACTCCGA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116427277	116427277	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:116427277G>A	uc003ynz.2	-	6	3279	c.2820C>T	c.(2818-2820)AAC>AAT	p.N940N	TRPS1_uc011lhy.1_Silent_p.N944N|TRPS1_uc003yny.2_Silent_p.N953N|TRPS1_uc010mcy.2_Silent_p.N940N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	940					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)			TCTGCTCACCGTTGTTTTGTT	0.403									Langer-Giedion_syndrome			
NOV	4856	broad.mit.edu	37	8	120430438	120430438	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:120430438C>T	uc003yoq.2	+	3	672	c.451C>T	c.(451-453)CCT>TCT	p.P151S		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	151	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGCTACTGCCTGAGCCTAA	0.557												
MTBP	27085	broad.mit.edu	37	8	121535566	121535566	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:121535566G>A	uc003ypc.1	+	22	2750	c.2705G>A	c.(2704-2706)AGC>AAC	p.S902N		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	902	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GAAAAGACAAGCAAGAAATGA	0.264												
FAM135B	51059	broad.mit.edu	37	8	139164494	139164494	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:139164494C>T	uc003yuy.2	-	13	2395	c.2224G>A	c.(2224-2226)GGC>AGC	p.G742S	FAM135B_uc003yux.2_Missense_Mutation_p.G643S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G304S|FAM135B_uc003yvb.2_Missense_Mutation_p.G304S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	742										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCTGGATGCCGCTTGGCAAA	0.522										HNSCC(54;0.14)		
SLC45A4	57210	broad.mit.edu	37	8	142228256	142228256	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:142228256G>A	uc003ywd.1	-	4	1638	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	SLC45A4_uc003ywc.1_Missense_Mutation_p.R444C|SLC45A4_uc010meq.1_Missense_Mutation_p.R442C	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	495					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACAGCAGGCGCACCGTGGTC	0.682												
NAPRT1	93100	broad.mit.edu	37	8	144658644	144658644	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144658644T>C	uc003yym.3	-	7	1005	c.980A>G	c.(979-981)CAG>CGG	p.Q327R	NAPRT1_uc003yyn.3_Missense_Mutation_p.Q327R|NAPRT1_uc011lkh.1_Missense_Mutation_p.Q327R|NAPRT1_uc003yyo.3_Missense_Mutation_p.Q327R	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	327					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCTGAGCCTGCTGTAGCAG	0.652												
PLEC	5339	broad.mit.edu	37	8	144993671	144993671	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144993671A>G	uc003zaf.1	-	32	10899	c.10729T>C	c.(10729-10731)TAC>CAC	p.Y3577H	PLEC_uc003zab.1_Missense_Mutation_p.Y3440H|PLEC_uc003zac.1_Missense_Mutation_p.Y3444H|PLEC_uc003zad.2_Missense_Mutation_p.Y3440H|PLEC_uc003zae.1_Missense_Mutation_p.Y3408H|PLEC_uc003zag.1_Missense_Mutation_p.Y3418H|PLEC_uc003zah.2_Missense_Mutation_p.Y3426H|PLEC_uc003zaj.2_Missense_Mutation_p.Y3467H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3577	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGCCCGAGTAGGGGTCTCTG	0.682												
PLEC	5339	broad.mit.edu	37	8	144997429	144997429	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144997429C>T	uc003zaf.1	-	31	7249	c.7079G>A	c.(7078-7080)CGC>CAC	p.R2360H	PLEC_uc003zab.1_Missense_Mutation_p.R2223H|PLEC_uc003zac.1_Missense_Mutation_p.R2227H|PLEC_uc003zad.2_Missense_Mutation_p.R2223H|PLEC_uc003zae.1_Missense_Mutation_p.R2191H|PLEC_uc003zag.1_Missense_Mutation_p.R2201H|PLEC_uc003zah.2_Missense_Mutation_p.R2209H|PLEC_uc003zaj.2_Missense_Mutation_p.R2250H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2360	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACCTGGCTGCGCTGGCGTGC	0.657												
HSF1	3297	broad.mit.edu	37	8	145535422	145535422	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145535422G>A	uc003zbt.3	+	8	930	c.760G>A	c.(760-762)GCC>ACC	p.A254T	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	254	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGCCTCTACGCCCCTGATGC	0.677												
NFKBIL2	4796	broad.mit.edu	37	8	145661198	145661198	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145661198C>T	uc011llg.1	-	17	2633	c.2618G>A	c.(2617-2619)CGT>CAT	p.R873H	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	873					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCGGGCACGGGGCCTGCT	0.582												
GPT	2875	broad.mit.edu	37	8	145730163	145730163	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145730163C>A	uc011lli.1	+	4	419	c.262C>A	c.(262-264)CTC>ATC	p.L88I	GPT_uc011llj.1_Missense_Mutation_p.L88I|GPT_uc003zdh.3_Missense_Mutation_p.L88I	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	88					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTCTTGGCCCTCTGTGTTAA	0.652												
INSL4	3641	broad.mit.edu	37	9	5231550	5231550	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:5231550G>A	uc003ziy.2	+	1	132	c.27G>A	c.(25-27)CTG>CTA	p.L9L		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	9					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGTCCTATCTGCCAGCAATCT	0.527												
C9orf93	203238	broad.mit.edu	37	9	15971659	15971659	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:15971659C>T	uc003zmd.2	+	26	4121	c.3806C>T	c.(3805-3807)CCT>CTT	p.P1269L	C9orf93_uc003zme.2_Missense_Mutation_p.P1184L|C9orf93_uc011lmu.1_Missense_Mutation_p.P1277L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1269											0				GBM - Glioblastoma multiforme(50;4.84e-07)		GCTCCTCTTCCTGCTGACACA	0.363												
ELAVL2	1993	broad.mit.edu	37	9	23704955	23704955	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:23704955G>A	uc003zpu.2	-	4	723	c.448C>T	c.(448-450)CGC>TGC	p.R150C	ELAVL2_uc003zps.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpt.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpv.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpw.2_Missense_Mutation_p.R150C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	150	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTAATAATGCGTCCATATTGT	0.428												
TESK1	7016	broad.mit.edu	37	9	35609103	35609103	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35609103G>T	uc003zxa.2	+	10	1581	c.1245G>T	c.(1243-1245)CAG>CAT	p.Q415H	TESK1_uc003zwz.1_Splice_Site|TESK1_uc010mks.2_Missense_Mutation_p.Q255H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	415					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCCACTCAGCTGCCCTTGG	0.637												
TESK1	7016	broad.mit.edu	37	9	35609490	35609490	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35609490G>A	uc003zxa.2	+	10	1968	c.1632G>A	c.(1630-1632)GCG>GCA	p.A544A	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.A384A	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	544					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCCCGGGCGGCAGCCCTGG	0.697												
TMEM8B	51754	broad.mit.edu	37	9	35852919	35852919	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35852919C>T	uc003zym.2	+	12	1930	c.915C>T	c.(913-915)TCC>TCT	p.S305S	TMEM8B_uc003zyo.2_Silent_p.S305S	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	305	Helical; (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CCTTAATGTCCGTGTGGGTCA	0.537												
FRMPD1	22844	broad.mit.edu	37	9	37744455	37744455	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:37744455C>A	uc004aag.1	+	16	2470	c.2426C>A	c.(2425-2427)CCT>CAT	p.P809H	FRMPD1_uc004aah.1_Missense_Mutation_p.P809H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	809						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		ACTTCTAGCCCTGAGAACAGC	0.502												
FAM189A2	9413	broad.mit.edu	37	9	71990713	71990713	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:71990713C>T	uc010mon.1	+	4	289	c.185C>T	c.(184-186)ACA>ATA	p.T62I	FAM189A2_uc004ahg.2_Missense_Mutation_p.T62I|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	62						integral to membrane					0						GCCAAGTGCACAGACAAAGAA	0.413												
TRPM3	80036	broad.mit.edu	37	9	73225553	73225553	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:73225553G>A	uc004aid.2	-	18	2847	c.2603C>T	c.(2602-2604)GCA>GTA	p.A868V	TRPM3_uc004ahu.2_Missense_Mutation_p.A698V|TRPM3_uc004ahv.2_Missense_Mutation_p.A670V|TRPM3_uc004ahw.2_Missense_Mutation_p.A740V|TRPM3_uc004ahx.2_Missense_Mutation_p.A727V|TRPM3_uc004ahy.2_Missense_Mutation_p.A730V|TRPM3_uc004ahz.2_Missense_Mutation_p.A717V|TRPM3_uc004aia.2_Missense_Mutation_p.A715V|TRPM3_uc004aib.2_Missense_Mutation_p.A705V|TRPM3_uc004aic.2_Missense_Mutation_p.A868V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	893	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CACGATGGGTGCATTGTAGAA	0.478												
PRUNE2	158471	broad.mit.edu	37	9	79469111	79469111	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:79469111C>T	uc010mpk.2	-	2	174	c.50G>A	c.(49-51)CGC>CAC	p.R17H	PRUNE2_uc004akn.2_Missense_Mutation_p.R17H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTTCTCCAAGCGTTTGCTTCG	0.338												
S1PR3	1903	broad.mit.edu	37	9	91615967	91615967	+	Splice_Site	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:91615967A>G	uc004aqe.2	+	2	250	c.-146_splice	c.e2-2			NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3						anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ATCTGTTGGCAGGAGCCCTTT	0.542											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM22F	54754	broad.mit.edu	37	9	97082562	97082562	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:97082562G>A	uc004aup.1	-	5	1317	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	432											0		Acute lymphoblastic leukemia(62;0.136)				AGGTTATCCCGTCCTCTTCCT	0.597												
TEX10	54881	broad.mit.edu	37	9	103065973	103065973	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:103065973G>T	uc004bas.2	-	14	2832	c.2617C>A	c.(2617-2619)CTC>ATC	p.L873I	TEX10_uc011lvf.1_Missense_Mutation_p.L712I|TEX10_uc011lvg.1_Missense_Mutation_p.L857I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	873						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGTCCTGAGGGGTGCATGC	0.532												
OR13C9	286362	broad.mit.edu	37	9	107380214	107380214	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:107380214G>T	uc011lvr.1	-	1	272	c.272C>A	c.(271-273)ACC>AAC	p.T91N		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAGGAAATGGTCTTTCTTTC	0.502												
PTPN3	5774	broad.mit.edu	37	9	112216842	112216842	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:112216842C>T	uc004bed.2	-	5	414	c.302G>A	c.(301-303)TGT>TAT	p.C101Y	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.C101Y|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.3_3'UTR	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	101	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						ATGCAGGGTACAGGGGAAACC	0.338												
C9orf84	158401	broad.mit.edu	37	9	114508553	114508553	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:114508553G>A	uc004bfr.2	-	8	983	c.848C>T	c.(847-849)ACA>ATA	p.T283I	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T347I|C9orf84_uc004bfq.2_Missense_Mutation_p.T244I|C9orf84_uc010mug.2_Missense_Mutation_p.T229I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	283										ovary(2)	2						CTGAAGTTCTGTACGTAATGA	0.318												
COL27A1	85301	broad.mit.edu	37	9	116973274	116973274	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:116973274G>A	uc011lxl.1	+	12	2335	c.2335G>A	c.(2335-2337)GTT>ATT	p.V779I	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.V578I	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	779	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCTGCCTGGCGTTCCTGGCAA	0.647												
C9orf91	203197	broad.mit.edu	37	9	117389184	117389184	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:117389184G>A	uc004bjd.3	+	4	439	c.222G>A	c.(220-222)CCG>CCA	p.P74P	C9orf91_uc004bje.3_Silent_p.P53P|C9orf91_uc004bjf.3_5'UTR	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	74						integral to membrane				pancreas(1)	1						AGCAGGTCCCGGCTGACCAGT	0.328												
TLR4	7099	broad.mit.edu	37	9	120476352	120476352	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:120476352T>G	uc004bjz.2	+	3	2237	c.1946T>G	c.(1945-1947)GTT>GGT	p.V649G	TLR4_uc004bka.2_Missense_Mutation_p.V609G|TLR4_uc004bkb.2_Missense_Mutation_p.V449G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	649	Helical; (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTTGTAGCAGTTCTGGTCTAT	0.428												
OR5C1	392391	broad.mit.edu	37	9	125551964	125551964	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:125551964C>T	uc011lzd.1	+	1	753	c.753C>T	c.(751-753)GCC>GCT	p.A251A		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACCTCACAGCCGTGGCCATGA	0.597												
RABGAP1	23637	broad.mit.edu	37	9	125863866	125863866	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:125863866C>T	uc011lzh.1	+	25	3045	c.2911C>T	c.(2911-2913)CGG>TGG	p.R971W	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.R310W	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	971	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TGACTGTGAGCGGTGCCGGGA	0.463												
GOLGA1	2800	broad.mit.edu	37	9	127651570	127651570	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:127651570G>A	uc004bpc.2	-	18	1955	c.1613C>T	c.(1612-1614)GCC>GTC	p.A538V	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	538	Potential.|Gln-rich.					Golgi cisterna membrane				ovary(1)	1						CTGCAGCAGGGCAGAGTTGTG	0.662												
USP20	10868	broad.mit.edu	37	9	132640637	132640637	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:132640637C>T	uc004bys.2	+	23	2641	c.2430C>T	c.(2428-2430)GCC>GCT	p.A810A	USP20_uc004byr.2_Silent_p.A810A|USP20_uc004byt.1_Silent_p.A810A|USP20_uc004byu.1_5'Flank	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	810	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CCTTCCAGGCCGAGGAGTCGC	0.612												
LAMC3	10319	broad.mit.edu	37	9	133914413	133914413	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:133914413G>A	uc004caa.1	+	5	1237	c.1139G>A	c.(1138-1140)TGC>TAC	p.C380Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	380	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGGATGCCATGCCAGCCCTGT	0.642												
FCN2	2220	broad.mit.edu	37	9	137778354	137778354	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:137778354C>T	uc004cfg.1	+	7	648	c.638C>T	c.(637-639)GCC>GTC	p.A213V	FCN2_uc004cfh.1_Missense_Mutation_p.A175V	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	213	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TTCAAGGTGGCCGACGAGGCG	0.577												
KCNT1	57582	broad.mit.edu	37	9	138594140	138594140	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:138594140C>T	uc011mdq.1	+	1	110	c.36C>T	c.(34-36)GGC>GGT	p.G12G	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Silent_p.G12G|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	12						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ccccggggggcgtctgccggg	0.507												
SEC16A	9919	broad.mit.edu	37	9	139371919	139371919	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139371919G>A	uc004chx.2	-	3	458	c.149C>T	c.(148-150)CCG>CTG	p.P50L	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.P50L|SEC16A_uc010nbn.2_Missense_Mutation_p.P50L|SEC16A_uc010nbo.1_Missense_Mutation_p.P50L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCGTGACCGGCTGCAACGG	0.577												
NOTCH1	4851	broad.mit.edu	37	9	139395053	139395053	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139395053C>T	uc004chz.2	-	31	5885	c.5885G>A	c.(5884-5886)CGC>CAC	p.R1962H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1962	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGGGTGCGGCCCATGTT	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
FAM69B	138311	broad.mit.edu	37	9	139612106	139612106	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139612106C>T	uc004cik.2	+	2	235	c.141C>T	c.(139-141)TAC>TAT	p.Y47Y		NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	47	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GGCTGGTGTACGTGCACTACT	0.667												
MAMDC4	158056	broad.mit.edu	37	9	139747775	139747775	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139747775G>A	uc004cjs.2	+	3	243	c.193G>A	c.(193-195)GCC>ACC	p.A65T	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	65	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGCCCCCTTCGCCTGTGACTT	0.692												
C8G	733	broad.mit.edu	37	9	139840987	139840987	+	Silent	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139840987T>C	uc004cka.2	+	5	600	c.525T>C	c.(523-525)ACT>ACC	p.T175T	FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	175					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CCCACCTGACTGAGGACCAGA	0.647												
ABCA2	20	broad.mit.edu	37	9	139910181	139910181	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139910181C>T	uc011mem.1	-	22	3605	c.3457G>A	c.(3457-3459)GTG>ATG	p.V1153M	ABCA2_uc011mel.1_Missense_Mutation_p.V1154M|ABCA2_uc004ckl.1_Missense_Mutation_p.V1084M|ABCA2_uc004ckm.1_Missense_Mutation_p.V1184M|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1153	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TAGGGGTCCACGCCCGCCGTG	0.697												
ANAPC2	29882	broad.mit.edu	37	9	140077586	140077586	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:140077586C>T	uc004clr.1	-	6	1350	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	ANAPC2_uc004clq.1_Missense_Mutation_p.R282H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTCAGGTAGCGGCGGATAGG	0.642												
EHMT1	79813	broad.mit.edu	37	9	140685301	140685301	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:140685301C>T	uc011mfc.1	+	16	2421	c.2384C>T	c.(2383-2385)GCG>GTG	p.A795V	EHMT1_uc004cob.1_Missense_Mutation_p.A764V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	795	ANK 2.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTTCACTAGGCGGGCGCTAAT	0.517												
PLCXD1	55344	broad.mit.edu	37	X	208208	208208	+	Missense_Mutation	SNP	C	C	T	rs142663151		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:208208C>T	uc004cpc.2	+	5	748	c.436C>T	c.(436-438)CGC>TGC	p.R146C	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	146	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		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)				GCGGCATCCACGCGAGGTGGT	0.597												
CRLF2	64109	broad.mit.edu	37	X	1327751	1327751	+	RNA	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:1327751C>T	uc004cpm.1	-	2		c.130G>A						Q9HC73	CRLF2_HUMAN	Homo sapiens mRNA for IL-XR, complete cds.							extracellular region|integral to membrane|plasma membrane	receptor activity			haematopoietic_and_lymphoid_tissue(7)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTCCATGTCACCTGCACGGTT	0.488			Mis|T	P2RY8|IGH@	B-ALL|Downs associated ALL							
ATXN3L	92552	broad.mit.edu	37	X	13337597	13337597	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:13337597C>T	uc010ned.2	-	1	922	c.457G>A	c.(457-459)GCT>ACT	p.A153T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	153	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TGTAATCGAGCCAAGAAATTT	0.398												
BCOR	54880	broad.mit.edu	37	X	39931667	39931667	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:39931667T>A	uc004den.3	-	4	3224	c.2932A>T	c.(2932-2934)AAA>TAA	p.K978*	BCOR_uc004dep.3_Nonsense_Mutation_p.K978*|BCOR_uc004deo.3_Nonsense_Mutation_p.K978*|BCOR_uc004dem.3_Nonsense_Mutation_p.K978*|BCOR_uc004deq.3_Nonsense_Mutation_p.K978*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	978					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GTGACACATTTGAATCGGTCA	0.507												
ACRC	93953	broad.mit.edu	37	X	70823565	70823565	+	Silent	SNP	A	A	G	rs147899825		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:70823565A>G	uc004eae.2	+	8	939	c.438A>G	c.(436-438)TCA>TCG	p.S146S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	146	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GTGATGATTCAGAAGCTCCCG	0.488												
ACRC	93953	broad.mit.edu	37	X	70823574	70823574	+	Silent	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:70823574C>T	uc004eae.2	+	8	948	c.447C>T	c.(445-447)CCC>CCT	p.P149P	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	149	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CAGAAGCTCCCGACGACAACA	0.473												
ZDHHC15	158866	broad.mit.edu	37	X	74644604	74644604	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:74644604C>T	uc004ecg.2	-	8	1097	c.619G>A	c.(619-621)GTT>ATT	p.V207I	ZDHHC15_uc004ech.2_Missense_Mutation_p.V198I|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	207						integral to membrane	zinc ion binding			ovary(2)	2						TTAGAGCGAACACTGGGTAAT	0.378												
PCDH11X	27328	broad.mit.edu	37	X	91132396	91132396	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:91132396C>T	uc004efk.1	+	2	2002	c.1157C>T	c.(1156-1158)ACG>ATG	p.T386M	PCDH11X_uc004efl.1_Missense_Mutation_p.T386M|PCDH11X_uc004efo.1_Missense_Mutation_p.T386M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T386M|PCDH11X_uc004efm.1_Missense_Mutation_p.T386M|PCDH11X_uc004efn.1_Missense_Mutation_p.T386M|PCDH11X_uc004efh.1_Missense_Mutation_p.T386M|PCDH11X_uc004efj.1_Missense_Mutation_p.T386M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	386	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATAACTGTGACGGATAAGGAT	0.418												
DCAF12L2	340578	broad.mit.edu	37	X	125298659	125298659	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125298659A>G	uc004euk.1	-	1	1276	c.1249T>C	c.(1249-1251)TGG>CGG	p.W417R		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	417										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TAGTTCACCCAGACGTCATCT	0.617												
DCAF12L2	340578	broad.mit.edu	37	X	125299569	125299569	+	Silent	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125299569G>A	uc004euk.1	-	1	366	c.339C>T	c.(337-339)TGC>TGT	p.C113C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	113										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						ACTTGGTGCCGCACACCACCT	0.657												
DCAF12L1	139170	broad.mit.edu	37	X	125686201	125686201	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125686201C>T	uc004eul.2	-	1	642	c.391G>A	c.(391-393)GCG>ACG	p.A131T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	131										skin(3)|ovary(1)	4						GGAATGCGCGCGATGTGGCCT	0.612												
UTP14A	10813	broad.mit.edu	37	X	129054501	129054501	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:129054501T>C	uc004euz.2	+	9	849	c.821T>C	c.(820-822)GTT>GCT	p.V274A	UTP14A_uc011mup.1_Missense_Mutation_p.V222A|UTP14A_uc011muq.1_Missense_Mutation_p.V220A|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	274	Potential.				rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CTGCGGAAGGTTAATCCAGCT	0.473												
G6PD	2539	broad.mit.edu	37	X	153762284	153762284	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:153762284G>A	uc004fly.1	-	7	849	c.736C>T	c.(736-738)CGC>TGC	p.R246C	G6PD_uc004flx.1_Missense_Mutation_p.R276C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	246					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGCCCCCGCGACCCTCAGTG	0.592												
AMELY	266	broad.mit.edu	37	Y	6736349	6736349	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrY:6736349A>G	uc004fra.1	-	5	356	c.344T>C	c.(343-345)CTG>CCG	p.L115P	AMELY_uc004fqz.2_Missense_Mutation_p.L101P	NM_001143	NP_001134	Q99218	AMELY_HUMAN	amelogenin, Y-linked precursor	115	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel				0						AACAGGCATCAGTGCTTGCTG	0.627												
C16orf93	90835	broad.mit.edu	37	16	30771925	30771925	+	Splice_Site	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30771925delA	uc002dzm.2	-	3	630	c.299_splice	c.e3+1	p.E100_splice	C16orf93_uc002dzn.2_Splice_Site_p.E100_splice|C16orf93_uc002dzo.2_Splice_Site_p.E63_splice|C16orf93_uc002dzp.2_Splice_Site_p.E100_splice|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835												0						CTCAGTCCCTACTCCCTCATC	0.522												
DTNBP1	84062	broad.mit.edu	37	6	15638038	15638038	+	Splice_Site	DEL	A	A	-	rs140124163		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome			
MYH13	8735	broad.mit.edu	37	17	10247429	10247429	+	Splice_Site	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:10247428_10247428TG>T	uc002gmk.1	-	16	1675	c.1585_splice	c.e16-1	p.P529_splice	MYH13_uc010vvf.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	529	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCATAGGCTGGAAAGAGGA	0.463												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
TWF1	5756	broad.mit.edu	37	12	44193276	44193276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:44193276delT	uc001rob.2	-	5	538	c.510delA	c.(508-510)AAAfs	p.K170fs	TWF1_uc001rnz.2_Frame_Shift_Del_p.K38fs|TWF1_uc001roa.2_Frame_Shift_Del_p.K170fs|TWF1_uc001roc.2_Frame_Shift_Del_p.K38fs	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	136	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		ACAGCAAGTATTTTTTATATC	0.353												
C16orf93	90835	broad.mit.edu	37	16	30771925	30771925	+	Splice_Site	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30771925delA	uc002dzm.2	-	3	630	c.299_splice	c.e3+1	p.E100_splice	C16orf93_uc002dzn.2_Splice_Site_p.E100_splice|C16orf93_uc002dzo.2_Splice_Site_p.E63_splice|C16orf93_uc002dzp.2_Splice_Site_p.E100_splice|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835												0						CTCAGTCCCTACTCCCTCATC	0.522												
C6orf27	80737	broad.mit.edu	37	6	31733484	31733484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31733484delA	uc011dog.1	-	17	2801	c.2563delT	c.(2563-2565)TCCfs	p.S855fs		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	855						extracellular region				ovary(3)	3						GTGAAGGGGGAAAAGGCAGGG	0.642												
ZC3H12B	340554	broad.mit.edu	37	X	64722706	64722707	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:64722706_64722707delTA	uc010nko.2	+	5	2104_2105	c.2095_2096delTA	c.(2095-2097)TATfs	p.Y699fs		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	699							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTCCCGCCTCTATGAGAGCAAC	0.614												
ACTL8	81569	broad.mit.edu	37	1	18149788	18149788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:18149787_18149787TC>T	uc001bat.3	+	1	500	c.284_284TC>T	c.(283-285)gtcfs	p.V95fs		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	95						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCAAGAGGTCCCCCCTGTG	0.622												
ZBTB40	9923	broad.mit.edu	37	1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGATGTTTTAAAAAAACTAG	0.381												
EIF2C1	26523	broad.mit.edu	37	1	36379836	36379836	+	Frame_Shift_Del	DEL	C	C	-	rs35257283		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:36379835_36379835AC>A	uc001bzl.3	+	13	2006	c.1793_1793AC>A	c.(1792-1794)cacfs	p.H598fs	EIF2C1_uc001bzk.3_Frame_Shift_Del_p.H523fs|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	598	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGTTACACACCCCCCAGCA	0.493												
MAP7D1	55700	broad.mit.edu	37	1	36636626	36636627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:36636625_36636626T>TC	uc001bzz.3	+	1	316_317	c.100_101T>TC	c.(100-102)tccfs	p.S34fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.S34fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.S34fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	34	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594												
MACF1	23499	broad.mit.edu	37	1	39926343	39926343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:39926342_39926342GA>G	uc021olw.1	+	56	16728	c.16728_16728GA>G	c.(16726-16728)aggfs	p.R5576fs	MACF1_uc021ols.1_Frame_Shift_Del_p.R5071fs|MACF1_uc021olt.1_Frame_Shift_Del_p.R5074fs|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7032					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.W5575R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			ATGTCTGGAGGAAAAAGTATA	0.413												
FAM19A3	284467	broad.mit.edu	37	1	113266684	113266684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:113266683_113266683CG>C	uc001ecu.3	+	3	451	c.382_382CG>C	c.(382-384)cggfs	p.R128fs	FAM19A3_uc001ecv.3_Frame_Shift_Del_p.P105fs|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Non-coding_Transcript	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGCCTGCCGGGGGAGGAG	0.622												
USH2A	7399	broad.mit.edu	37	1	215820962	215820962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:215820961_215820961AC>A	uc001hku.1	-	66	15081	c.14694_14694GT>T	c.(14692-14694)ggtfs	p.G4898fs		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4898	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGCTGGAGACCCCCAAGGC	0.562										HNSCC(13;0.011)		
NEU2	4759	broad.mit.edu	37	2	233899467	233899467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:233899466_233899466GC>G	uc010zmn.2	+	1	842	c.842_842GC>G	c.(841-843)agcfs	p.S281fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	281							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AGCTTCCCCAGCCCCCGCTCG	0.672												
AGAP1	116987	broad.mit.edu	37	2	236649623	236649624	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:236649622_236649623AAG>A	uc002vvs.3	+	3	924_925	c.326_327AAG>A	c.(325-327)aaafs	p.K109fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.K109fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.K109fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	109	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGTTCAAGAAAGAGATTGTCG	0.535												
MED12L	116931	broad.mit.edu	37	3	150877786	150877787	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:150877785_150877786G>GC	uc003eyp.3	+	6	1133_1134	c.1004_1005G>GC	c.(1003-1005)ggcfs	p.G335fs	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Frame_Shift_Ins_p.G335fs|MED12L_uc003eyo.3_Frame_Shift_Ins_p.G335fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584												
ADAM29	11086	broad.mit.edu	37	4	175898317	175898318	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:175898316_175898317C>CA	uc003iuc.3	+	4	2310_2311	c.1640_1641C>CA	c.(1639-1641)tcafs	p.S547fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.S547fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.S547fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.S547fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.S547fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	547	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAGT	0.386												
EXOC2	55770	broad.mit.edu	37	6	637794	637795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:637793_637794A>AG	uc003mtd.3	-	1	159_160	c.25_26T>CT	c.(25-27)cttfs	p.L9fs	EXOC2_uc003mte.3_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485												
SCAND3	114821	broad.mit.edu	37	6	28540408	28540408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28540407_28540407GT>G	uc003nlo.3	-	3	3877	c.3259_3259AC>C	c.(3259-3261)cccfs	p.P1087fs		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1087					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaccacatgggtttcttgcct	0.378												
SUPT3H	8464	broad.mit.edu	37	6	44922337	44922337	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:44922336_44922336CT>C	uc003oxp.3	-	7	755	c.589_589AG>G	c.(589-591)gctfs	p.A197fs	SUPT3H_uc003oxn.1_Frame_Shift_Del_p.A197fs|SUPT3H_uc003oxo.3_Frame_Shift_Del_p.A208fs|SUPT3H_uc011dvv.2_Frame_Shift_Del_p.A45fs|SUPT3H_uc011dvw.2_Frame_Shift_Del_p.A111fs	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	279					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AATTTGGAAGCTTTTTTGGCT	0.333												
TSPYL1	7259	broad.mit.edu	37	6	116600626	116600626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:116600625_116600625CT>C	uc003pwp.4	-	0	656	c.369_369AG>G	c.(367-369)aagfs	p.K123fs	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	123					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CCTGAACGCCCTTTTTCAGGC	0.657												
GJA1	2697	broad.mit.edu	37	6	121768438	121768438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:121768437_121768437AG>A	uc003pyr.3	+	1	694	c.444_444AG>A	c.(442-444)cgafs	p.R148fs	GJA1_uc011ebo.1_Frame_Shift_Del_p.R49fs|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Frame_Shift_Del_p.R148fs	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	148			R -> Q (in dbSNP:rs2228960).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.R148Q(1)|p.R148*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGAAAATGCGAGGGGGGTTGC	0.448												
HOXA7	3204	broad.mit.edu	37	7	27195899	27195900	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:27195898_27195899GAT>G	uc003sys.3	-	0	398_399	c.266_267ATC>C	c.(265-267)atcfs	p.I89fs		NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	89					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AGAGCCCGGGGATGTTTTGGTC	0.653												
GPR141	353345	broad.mit.edu	37	7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:37780554_37780554AT>A	uc003tfm.1	+	0	559	c.559_559AT>A	c.(559-561)attfs	p.I187fs	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	187						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGATAGTCATTTTTGTCAT	0.403												
ZHX1	11244	broad.mit.edu	37	8	124266068	124266071	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:124266067_124266070CAACT>C	uc003yqe.3	-	2	2727_2730	c.2117_2120AGTTG>G	c.(2116-2121)agttggfs	p.S706fs	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Frame_Shift_Del_p.S706fs|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Frame_Shift_Del_p.S706fs|ZHX1_uc022bak.1_Frame_Shift_Del_p.S706fs	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	706					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCCCAAACCAACTAACTATGTC	0.451												
C9orf41	138199	broad.mit.edu	37	9	77599854	77599854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:77599853_77599853GT>G	uc004ajq.3	-	6	1251	c.1098_1098AC>C	c.(1096-1098)aacfs	p.N366fs	BC043649_uc004ajp.3_Intron|C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	366										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GCAGAACAACGTTTTTTATAT	0.358												
NDUFV1	4723	broad.mit.edu	37	11	67377028	67377028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:67377027_67377027TG>T	uc001omj.2	+	3	584	c.431_431TG>T	c.(430-432)gtgfs	p.V144fs	NDUFV1_uc010rpv.1_Frame_Shift_Del_p.V43fs|NDUFV1_uc001omk.4_Frame_Shift_Del_p.V135fs|NDUFV1_uc001oml.2_Frame_Shift_Del_p.V137fs|NDUFV1_uc009yrz.1_Frame_Shift_Del_p.V43fs|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCTGCCTGGTGGGGGGCCGG	0.607												
NUMA1	4926	broad.mit.edu	37	11	71726491	71726491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:71726490_71726490CT>C	uc001orl.1	-	14	2231	c.2059_2059AG>G	c.(2059-2061)gcafs	p.A687fs	NUMA1_uc009ysw.1_Frame_Shift_Del_p.A250fs|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.A687fs|NUMA1_uc001orn.2_Frame_Shift_Del_p.A250fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.A687fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.A687fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	687					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCTCAGTTGCTTTTTGCTGC	0.587			T	RARA	APL							
GRIA4	2893	broad.mit.edu	37	11	105732777	105732777	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:105732776_105732776GA>G	uc001pix.2	+	4	960	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	GRIA4_uc001piu.1_Frame_Shift_Del_p.E172fs|GRIA4_uc001piw.2_Frame_Shift_Del_p.E172fs|GRIA4_uc001piv.3_Frame_Shift_Del_p.E172fs|GRIA4_uc009yxk.1_Frame_Shift_Del_p.E172fs	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	172					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCTATTATGGAAAAAGCAGG	0.373												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
MLL2	8085	broad.mit.edu	37	12	49445526	49445527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:49445525_49445526T>TG	uc001rta.4	-	9	1940_1941	c.1940_1941A>CA	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACAT	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
FMNL3	91010	broad.mit.edu	37	12	50048744	50048745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:50048743_50048744C>CA	uc001ruv.1	-	9	1143_1144	c.909_910G>TG	c.(907-912)tttgagfs	p.F303fs	FMNL3_uc001ruw.1_Frame_Shift_Ins_p.F252fs|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Frame_Shift_Ins_p.F153fs	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	303	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCAGCTTCTCAAAGCGGTGCA	0.530												
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56559112_56559113A>AG	uc001skb.3	-	25	3234_3235	c.3128_3129T>CT	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_uc001skd.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001ska.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001skc.3_Frame_Shift_Ins_p.P1073fs|SMARCC2_uc010sqf.2_Frame_Shift_Ins_p.P963fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574												
NCOR2	9612	broad.mit.edu	37	12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1310					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EFHA1	221154	broad.mit.edu	37	13	22077129	22077129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:22077128_22077128GA>G	uc001uof.3	-	8	938	c.870_870TC>C	c.(868-870)ttcfs	p.F290fs	EFHA1_uc010tct.2_Frame_Shift_Del_p.F80fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	290							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CAGTGTTAGTGAAAAAAAGTA	0.323												
TJP1	7082	broad.mit.edu	37	15	30024704	30024704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:30024703_30024703CA>C	uc001zcr.3	-	14	2426	c.1951_1951TG>G	c.(1951-1953)ggafs	p.G651fs	TJP1_uc010azl.3_Frame_Shift_Del_p.G639fs|TJP1_uc001zcq.3_Frame_Shift_Del_p.G655fs|TJP1_uc001zcs.3_Frame_Shift_Del_p.G651fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	651	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTATTGGTCCAAAAATGGTT	0.368												
C15orf52	388115	broad.mit.edu	37	15	40630772	40630773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40630771_40630772T>TG	uc001zlh.4	-	4	625_626	c.609_610A>CA	c.(607-612)cccacgfs	p.P203fs	C15orf52_uc001zli.1_Frame_Shift_Ins_p.P135fs|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	203										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZC3H7A	29066	broad.mit.edu	37	16	11846617	11846619	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:11846616_11846618CGGA>C	uc002dbk.3	-	20	2831_2833	c.2633_2635TCCG>G	c.(2632-2637)tccgag>tGag	p.878_879SE>*	ZC3H7A_uc002dbh.3_In_Frame_Del_p.18_19SE>*|ZC3H7A_uc002dbi.3_In_Frame_Del_p.66_67SE>*|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_In_Frame_Del_p.878_879SE>*	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	878						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTGTGCTTCTCGGAGGAGATGTG	0.502												
ERN2	10595	broad.mit.edu	37	16	23703318	23703320	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:23703317_23703319AAAG>A	uc002dma.4	-	18	2654_2656	c.2485_2487CTTT>T	c.(2485-2487)ttt>T	p.F829del	ERN2_uc010bxp.3_In_Frame_Del_p.F777del	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	781	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTCTGCTCCAAAAGAAGGGGTGG	0.591												
NLRC5	84166	broad.mit.edu	37	16	57088736	57088736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:57088735_57088735TA>T	uc021tiu.1	+	23	3706	c.3579_3579TA>T	c.(3577-3579)gttfs	p.V1193fs	NLRC5_uc021tiv.1_Frame_Shift_Del_p.V998fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.V968fs|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Frame_Shift_Del_p.V109fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1193					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.R1192L(1)|p.R1192W(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGGGTTAAAAAGGTGG	0.582												
BCL6B	255877	broad.mit.edu	37	17	6927858	6927859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:6927857_6927858G>GC	uc010clt.1	+	3	601_602	c.539_540G>GC	c.(538-540)ggcfs	p.G180fs	BCL6B_uc002geg.2_Frame_Shift_Ins_p.G180fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619												
MYH13	8735	broad.mit.edu	37	17	10247429	10247429	+	Splice_Site	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:10247428_10247428TG>T	uc002gmk.1	-	16	1675	c.1585_splice	c.e16-1	p.P529_splice	MYH13_uc010vvf.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	529	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCATAGGCTGGAAAGAGGA	0.463												
FBXO47	494188	broad.mit.edu	37	17	37099038	37099038	+	Frame_Shift_Del	DEL	A	A	-	rs34478092		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:37099037_37099037CA>C	uc002hrc.2	-	8	1277	c.1077_1077TG>G	c.(1075-1077)ttgfs	p.L359fs		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	359										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTACCAAAGCCAAAAAGACTA	0.403												
SMAD2	4087	broad.mit.edu	37	18	45371785	45371785	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45371784_45371784CA>C	uc002lcy.3	-	9	1455	c.1207_1207TG>G	c.(1207-1209)gaafs	p.E403fs	SMAD2_uc002lcz.3_Frame_Shift_Del_p.E403fs|SMAD2_uc010xdc.2_Frame_Shift_Del_p.E373fs|SMAD2_uc010xdd.1_Frame_Shift_Del_p.E373fs	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	403	MH2.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TAGACGGCTTCAAAACCCTGA	0.378												
KANK2	25959	broad.mit.edu	37	19	11287378	11287378	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11287377_11287377TG>T	uc002mqm.3	-	4	1740	c.1661_1661CA>A	c.(1660-1662)cagfs	p.Q554fs	KANK2_uc021upe.1_Frame_Shift_Del_p.Q546fs|KANK2_uc002mqo.4_Frame_Shift_Del_p.Q546fs|KANK2_uc002mqp.1_Frame_Shift_Del_p.Q355fs	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	546								p.A554V(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGCCTGAGCTGGGGGGCTTC	0.632												
ZNF486	90649	broad.mit.edu	37	19	20308120	20308120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:20308119_20308119TA>T	uc002nou.2	+	3	657	c.600_600TA>T	c.(598-600)catfs	p.H200fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATACTACACATAAAAAAATTG	0.343												
MLL2	8085	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
RASIP1	54922	broad.mit.edu	37	19	49224207	49224207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49224206_49224206AG>A	uc002pki.3	-	11	2938	c.2741_2741CT>T	c.(2740-2742)ctgfs	p.L914fs	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.3_Frame_Shift_Del_p.L175fs	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	914					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGAGCTCCCCAGGGGGAGGAT	0.642												
RIN2	54453	broad.mit.edu	37	20	19956092	19956093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:19956091_19956092G>GC	uc002wro.2	+	7	1718_1719	c.1569_1570G>GC	c.(1567-1572)gcgcccfs	p.A523fs	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Frame_Shift_Ins_p.A268fs	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	474					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGACCATGGCGCCCCCCATCAA	0.589												
ADNP	23394	broad.mit.edu	37	20	49509189	49509190	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:49509188_49509189C>CA	uc002xvt.1	-	4	2407_2408	c.2062_2063G>TG	c.(2062-2064)aggfs	p.R688fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.R688fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	688						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCCAACGCCCCTGCAGTGAACT	0.485												
DSCAM	1826	broad.mit.edu	37	21	41414356	41414356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:41414355_41414355TG>T	uc002yyq.1	-	31	6081	c.5629_5629CA>A	c.(5629-5631)aaafs	p.K1877fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1877					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTGAGGTTTGGGGGGAGAT	0.567												
GPC4	2239	broad.mit.edu	37	X	132548849	132548849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:132548848_132548848AG>A	uc004exc.1	-	0	358	c.146_146CT>T	c.(145-147)ctcfs	p.L49fs	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	49					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GATCTCGTGGAGGGGGGCATC	0.647