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
NPHP4	261734	broad.mit.edu	37	1	5965427	5965427	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:5965427G>A	uc001alq.1	-	15	2146	c.1880C>T	c.(1879-1881)ACG>ATG	p.T627M	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	627			T -> M (in SLSN4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTTAAACGTCACAGGTTC	0.488												
NPHP4	261734	broad.mit.edu	37	1	5965471	5965471	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:5965471G>T	uc001alq.1	-	15	2102	c.1836C>A	c.(1834-1836)GCC>GCA	p.A612A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	612					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTTTATTGGCATCCAGAA	0.552												
CHD5	26038	broad.mit.edu	37	1	6206878	6206878	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6206878C>T	uc001amb.1	-	10	1537	c.1437G>A	c.(1435-1437)GAG>GAA	p.E479E	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	479	Pro-rich.				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)		GGGCAGGGGGCTCCGTCCACC	0.662												
ESPN	83715	broad.mit.edu	37	1	6488424	6488424	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6488424G>A	uc001amy.2	+	2	601	c.433G>A	c.(433-435)GCT>ACT	p.A145T		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	145	ANK 5.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TATCCACTACGCTGCCGCCAA	0.652												
DNAJC11	55735	broad.mit.edu	37	1	6712907	6712907	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6712907C>T	uc001aof.2	-	6	718	c.612G>A	c.(610-612)TCG>TCA	p.S204S	DNAJC11_uc010nzt.1_Silent_p.S166S|DNAJC11_uc001aog.2_Silent_p.S204S|DNAJC11_uc010nzu.1_Silent_p.S114S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	204					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCTTTGCCGAAGTTACTC	0.478												
SPSB1	80176	broad.mit.edu	37	1	9416386	9416386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:9416386C>T	uc010oae.1	+	2	775	c.436C>T	c.(436-438)CGC>TGC	p.R146C	SPSB1_uc001apv.2_Missense_Mutation_p.R146C	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	146	B30.2/SPRY.				intracellular signal transduction	cytoplasm					0	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTTGGGGCGCAACCGGCT	0.607												
PEX14	5195	broad.mit.edu	37	1	10690017	10690017	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:10690017C>T	uc001arn.2	+	9	1128	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	PEX14_uc009vmv.2_Silent_p.G305G|PEX14_uc010oam.1_Silent_p.G305G|PEX14_uc010oan.1_Silent_p.G326G|PEX14_uc009vmw.2_Silent_p.G305G	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	369					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCCGAGGGCGCCAGCAACG	0.692												
MTOR	2475	broad.mit.edu	37	1	11175526	11175526	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:11175526C>A	uc001asd.2	-	51	7138	c.7017_splice	c.e51-1	p.R2339_splice	MTOR_uc001asc.2_Splice_Site_p.R544_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGATGGGTGTCTTTGAGAAAC	0.418												
MFN2	9927	broad.mit.edu	37	1	12059139	12059139	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:12059139A>C	uc001atn.3	+	8	1256	c.803A>C	c.(802-804)GAG>GCG	p.E268A	MFN2_uc009vni.2_Missense_Mutation_p.E268A	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	268	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)		TCAGAGCCCGAGTACATGGAG	0.567												
TNFRSF1B	7133	broad.mit.edu	37	1	12262149	12262149	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:12262149G>A	uc001att.2	+	9	1115	c.1026G>A	c.(1024-1026)GCG>GCA	p.A342A	TNFRSF1B_uc001atu.2_Silent_p.A147A|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	342	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACAGAAGGGCGCCCACTCGGA	0.701												
PRDM2	7799	broad.mit.edu	37	1	14107751	14107751	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:14107751C>A	uc001avi.2	+	8	4317	c.3461C>A	c.(3460-3462)TCT>TAT	p.S1154Y	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1154Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S953Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1154	C2H2-type 4.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAACATTTATCTATTCATGCT	0.358												
KAZ	23254	broad.mit.edu	37	1	15390070	15390070	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:15390070C>T	uc001avm.3	+	7	1331	c.1050C>T	c.(1048-1050)GGC>GGT	p.G350G	KAZ_uc009vog.1_Silent_p.G350G|KAZ_uc010obj.1_Silent_p.G350G|KAZ_uc001avo.2_Silent_p.G344G|KAZ_uc001avp.2_Silent_p.G256G|KAZ_uc001avq.2_Silent_p.G256G|KAZ_uc001avr.2_Nonsense_Mutation_p.R252*	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	350					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GGCTACAGGGCGACAGTCCCG	0.602												
SPEN	23013	broad.mit.edu	37	1	16202716	16202716	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16202716C>T	uc001axk.1	+	3	628	c.424C>T	c.(424-426)CGT>TGT	p.R142C	SPEN_uc010obp.1_Missense_Mutation_p.R101C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	142	Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACAGGGAGCGTGCTTATGA	0.438												
SPEN	23013	broad.mit.edu	37	1	16260465	16260465	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16260465A>G	uc001axk.1	+	11	7934	c.7730A>G	c.(7729-7731)GAC>GGC	p.D2577G	SPEN_uc010obp.1_Missense_Mutation_p.D2536G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2577	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGCCAGTTGACTCTAAAAAG	0.532												
EPHA2	1969	broad.mit.edu	37	1	16461656	16461656	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16461656C>T	uc001aya.1	-	7	1594	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	486	Extracellular (Potential).|Fibronectin type-III 2.				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)	ACCCTCGGTGCGGCGCACATT	0.701												
PADI3	51702	broad.mit.edu	37	1	17575654	17575654	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:17575654C>T	uc001bai.2	+	1	62	c.22C>T	c.(22-24)CGT>TGT	p.R8C		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	8					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGAATCGTGCGTGTGTCCCT	0.592												
ARHGEF10L	55160	broad.mit.edu	37	1	18023681	18023681	+	Missense_Mutation	SNP	G	G	A	rs149908903		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:18023681G>A	uc001ban.2	+	29	3805	c.3646G>A	c.(3646-3648)GAC>AAC	p.D1216N	ARHGEF10L_uc001bao.2_Missense_Mutation_p.D1177N|ARHGEF10L_uc001bap.2_Missense_Mutation_p.D1172N|ARHGEF10L_uc001baq.2_Missense_Mutation_p.D977N|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.D989N|ARHGEF10L_uc001bar.2_Missense_Mutation_p.D919N|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.D240N	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1216					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GATGGCCGACGACCCCGACAT	0.697												
AKR7A2	8574	broad.mit.edu	37	1	19630817	19630817	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:19630817C>T	uc001bbw.2	-	7	1004	c.982G>A	c.(982-984)GCA>ACA	p.A328T	AKR7A2_uc001bbx.2_Missense_Mutation_p.A293T	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	328					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTTGCTGCCAAGTTCTGC	0.607												
HSPG2	3339	broad.mit.edu	37	1	22192298	22192298	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22192298G>A	uc001bfj.2	-	34	4266	c.4226C>T	c.(4225-4227)GCG>GTG	p.A1409V	HSPG2_uc009vqd.2_Missense_Mutation_p.A1410V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1409	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCGTAGGCCGCCACCTGCAA	0.592												
ZBTB40	9923	broad.mit.edu	37	1	22843928	22843928	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22843928G>A	uc001bft.2	+	14	3315	c.2804G>A	c.(2803-2805)GGC>GAC	p.G935D	ZBTB40_uc001bfu.2_Missense_Mutation_p.G935D|ZBTB40_uc009vqi.1_Missense_Mutation_p.G823D	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	935	C2H2-type 5.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CAAGCCAATGGCCTCTCCATC	0.572												
C1QC	714	broad.mit.edu	37	1	22974052	22974052	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22974052G>A	uc001bgc.3	+	3	617	c.514G>A	c.(514-516)GCG>ACG	p.A172T	C1QC_uc001bga.3_Missense_Mutation_p.A172T|C1QC_uc001bgb.2_Missense_Mutation_p.A172T	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	172	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTCTACCACGCGTCGCATAC	0.572												
RHD	6007	broad.mit.edu	37	1	25611170	25611170	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25611170G>A	uc001bjz.2	+	2	313	c.255G>A	c.(253-255)GCG>GCA	p.A85A	RHD_uc010oep.1_Silent_p.A85A|RHD_uc001bkc.2_Silent_p.A85A|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.A85A|RHD_uc001bkb.2_Silent_p.A85A|RHD_uc009vrn.2_Silent_p.A85A|RHD_uc009vro.2_Silent_p.A85A|RHD_uc009vrp.2_Silent_p.A85A	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	85	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)		TCATGCTGGCGCTTGGTGTGC	0.577												
TMEM57	55219	broad.mit.edu	37	1	25818071	25818071	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25818071C>A	uc001bkk.2	+	10	1990	c.1788C>A	c.(1786-1788)GCC>GCA	p.A596A	TMEM57_uc009vru.2_Silent_p.A369A|TMEM57_uc009vrv.2_Silent_p.A238A	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	596						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCGAGATTGCCCAAGGTAGGA	0.562												
LDLRAP1	26119	broad.mit.edu	37	1	25880532	25880532	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25880532G>A	uc001bkl.3	+	2	322	c.208G>A	c.(208-210)GCC>ACC	p.A70T		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	70	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GTCGGCCGCCGCCATCAAGAG	0.642												
MAN1C1	57134	broad.mit.edu	37	1	26104649	26104649	+	Silent	SNP	C	C	A	rs144169583		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26104649C>A	uc001bkm.2	+	9	1641	c.1311C>A	c.(1309-1311)GCC>GCA	p.A437A	MAN1C1_uc009vry.1_Silent_p.A257A|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	437	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTACATTGCCGAGTGGCGAG	0.627												
CNKSR1	10256	broad.mit.edu	37	1	26516001	26516001	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26516001C>A	uc001bln.3	+	21	2183	c.2125C>A	c.(2125-2127)CTG>ATG	p.L709M	CNKSR1_uc001blm.3_Missense_Mutation_p.L702M|CNKSR1_uc009vsd.2_Missense_Mutation_p.L444M|CNKSR1_uc009vse.2_Missense_Mutation_p.L444M|CNKSR1_uc001blo.2_Missense_Mutation_p.L444M|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	709					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCCCCTGACCTCAGA	0.617												
CATSPER4	378807	broad.mit.edu	37	1	26517892	26517892	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26517892G>A	uc010oez.1	+	2	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	110	Helical; Name=Segment S1; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCACCATCGCTCTCCGTAC	0.428												
MAP3K6	9064	broad.mit.edu	37	1	27687237	27687237	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27687237C>T	uc001bny.1	-	15	2262	c.2013G>A	c.(2011-2013)AGG>AGA	p.R671R	MAP3K6_uc009vsw.1_Silent_p.R663R|MAP3K6_uc001bnz.1_Silent_p.R194R	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	671	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	p.L671V(1)		breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGATGCGCACCCTCGTGTGGC	0.701												
EPB41	2035	broad.mit.edu	37	1	29386935	29386935	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29386935A>G	uc001brm.1	+	14	1953	c.1946A>G	c.(1945-1947)AAA>AGA	p.K649R	EPB41_uc001brg.1_Missense_Mutation_p.K426R|EPB41_uc001brh.1_Missense_Mutation_p.K407R|EPB41_uc001bri.1_Intron|EPB41_uc001brj.1_Intron|EPB41_uc001brk.2_Missense_Mutation_p.K635R|EPB41_uc001brl.1_Missense_Mutation_p.K616R|EPB41_uc009vtl.1_Intron|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	649	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTTCACAGAAAAAGAGAGAA	0.313												
PTPRU	10076	broad.mit.edu	37	1	29586016	29586016	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29586016C>T	uc001bru.2	+	5	725	c.615C>T	c.(613-615)AAC>AAT	p.N205N	PTPRU_uc001brv.2_Silent_p.N205N|PTPRU_uc001brw.2_Silent_p.N205N|PTPRU_uc009vtq.2_Silent_p.N205N|PTPRU_uc009vtr.2_Silent_p.N205N	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	205	Extracellular (Potential).|Ig-like C2-type.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGGCCAGAACGCGTCGTTCC	0.692												
PTPRU	10076	broad.mit.edu	37	1	29650282	29650282	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29650282G>A	uc001bru.2	+	29	4234	c.4124G>A	c.(4123-4125)CGC>CAC	p.R1375H	PTPRU_uc001brv.2_Missense_Mutation_p.R1371H|PTPRU_uc001brw.2_Missense_Mutation_p.R1365H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1369H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1362H|PTPRU_uc001brx.2_Missense_Mutation_p.R101H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1375	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGGATGGGCGCACCATCGTG	0.642												
COL16A1	1307	broad.mit.edu	37	1	32131489	32131489	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32131489G>A	uc001btk.1	-	54	3815	c.3450C>T	c.(3448-3450)GGC>GGT	p.G1150G	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.G948G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1150	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCACCTGGTCGCCCTTCTCAC	0.607												
TMEM39B	55116	broad.mit.edu	37	1	32557330	32557330	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32557330C>T	uc010ogv.1	+	6	791	c.645C>T	c.(643-645)AGC>AGT	p.S215S	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Silent_p.S88S|TMEM39B_uc001bue.3_Silent_p.S216S|TMEM39B_uc001buf.3_Silent_p.S16S|TMEM39B_uc010ogw.1_Silent_p.S16S	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	215						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCAAGACAAGCCTCTTCAACC	0.632												
IQCC	55721	broad.mit.edu	37	1	32673633	32673633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32673633G>T	uc001bum.2	+	5	1398	c.1351G>T	c.(1351-1353)GGA>TGA	p.G451*	IQCC_uc009vua.2_Nonsense_Mutation_p.G531*|IQCC_uc010ogz.1_Nonsense_Mutation_p.G351*|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	451										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCTGTACAGGAGAGGAACA	0.498												
DLGAP3	58512	broad.mit.edu	37	1	35331731	35331731	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:35331731C>T	uc001byc.2	-	10	2893	c.2893G>A	c.(2893-2895)GCC>ACC	p.A965T		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	965					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				ATGCTGTCGGCGCTCTCGGTG	0.507												
ZC3H12A	80149	broad.mit.edu	37	1	37941105	37941105	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:37941105G>A	uc001cbb.3	+	2	158	c.8G>A	c.(7-9)GGC>GAC	p.G3D		NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	3					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTATGAGTGGCCCCTGTGGA	0.607												
INPP5B	3633	broad.mit.edu	37	1	38330097	38330097	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:38330097T>C	uc001ccg.1	-	23	2609	c.2515_splice	c.e23-1	p.V839_splice	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Splice_Site_p.V675_splice	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAAATGACCTGAAAGAGGAA	0.393												
HPCAL4	51440	broad.mit.edu	37	1	40149645	40149645	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40149645C>T	uc001cdr.2	-	3	462	c.342G>A	c.(340-342)GGG>GGA	p.G114G	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	114	EF-hand 3.|2 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTGATGCGCCCGTCGCCGT	0.682												
MYCL1	4610	broad.mit.edu	37	1	40363267	40363267	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40363267C>T	uc001cer.1	-	3	1089	c.872G>A	c.(871-873)CGC>CAC	p.R291H	MYCL1_uc001ces.1_Missense_Mutation_p.R291H	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	291	Basic motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGCCTCTTGCGCTCCAGGAA	0.577			A		small cell lung 							
MYCL1	4610	broad.mit.edu	37	1	40366677	40366677	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40366677C>T	uc001cer.1	-	2	647	c.430G>A	c.(430-432)GCC>ACC	p.A144T	MYCL1_uc001ces.1_Missense_Mutation_p.A144T|MYCL1_uc001cet.1_Missense_Mutation_p.A144T	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	144						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACAGGGGGCGGCGGGCGCC	0.761			A		small cell lung 							
SCMH1	22955	broad.mit.edu	37	1	41540998	41540998	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:41540998G>A	uc001cgo.2	-	9	1152	c.841C>T	c.(841-843)CGG>TGG	p.R281W	SCMH1_uc010ojr.1_Missense_Mutation_p.R123W|SCMH1_uc001cgp.2_Missense_Mutation_p.R220W|SCMH1_uc001cgr.2_Missense_Mutation_p.R220W|SCMH1_uc001cgs.2_Missense_Mutation_p.R291W|SCMH1_uc001cgt.2_Missense_Mutation_p.R220W|SCMH1_uc001cgq.2_Missense_Mutation_p.R234W|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	281					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTCCGGCCCCGCTTCTTTCCT	0.537												
TIE1	7075	broad.mit.edu	37	1	43783574	43783574	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43783574A>G	uc001ciu.2	+	17	2832	c.2753A>G	c.(2752-2754)GAA>GGA	p.E918G	TIE1_uc010oke.1_Missense_Mutation_p.E873G|TIE1_uc009vwq.2_Missense_Mutation_p.E874G|TIE1_uc010okg.1_Missense_Mutation_p.E563G	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	918	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCGCTATTGAATATGCCCCC	0.522												
MED8	112950	broad.mit.edu	37	1	43851888	43851888	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43851888G>A	uc001cjg.3	-	6	551	c.503C>T	c.(502-504)CCG>CTG	p.P168L	MED8_uc001cje.1_Missense_Mutation_p.P168L|MED8_uc001cjf.3_Missense_Mutation_p.P79L	NM_201542	NP_963836	Q96G25	MED8_HUMAN	mediator complex subunit 8 isoform 1	168					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCTTGTTCGGCCGGAGACC	0.507												
KIAA0467	23334	broad.mit.edu	37	1	43914078	43914078	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43914078C>T	uc001cjk.1	+	54	7657	c.7195C>T	c.(7195-7197)CGC>TGC	p.R2399C	KIAA0467_uc001cjl.1_Missense_Mutation_p.R387C	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3298						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTAGGGGGGCGCCTGGCCCT	0.652												
PTPRF	5792	broad.mit.edu	37	1	44072062	44072062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44072062G>A	uc001cjr.2	+	20	3975	c.3635G>A	c.(3634-3636)CGG>CAG	p.R1212Q	PTPRF_uc001cjs.2_Missense_Mutation_p.R1203Q|PTPRF_uc001cju.2_Missense_Mutation_p.R590Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R772Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R672Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R438Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1212	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCTACAACCGGCCCCTGTCT	0.582												
SLC6A9	6536	broad.mit.edu	37	1	44474227	44474227	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44474227C>T	uc001cll.2	-	5	799	c.607G>A	c.(607-609)GCC>ACC	p.A203T	SLC6A9_uc009vxe.2_Missense_Mutation_p.A59T|SLC6A9_uc010okm.1_Missense_Mutation_p.A130T|SLC6A9_uc001clm.2_Missense_Mutation_p.A149T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A134T|SLC6A9_uc001cln.2_Missense_Mutation_p.A130T|SLC6A9_uc010oko.1_Missense_Mutation_p.A19T|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	203	Helical; Name=3; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TAGTAGAAGGCGATGCAGATG	0.587												
MUTYH	4595	broad.mit.edu	37	1	45797368	45797368	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:45797368C>A	uc001cnm.2	-	12	1358	c.1142G>T	c.(1141-1143)GGG>GTG	p.G381V	MUTYH_uc009vxn.2_Missense_Mutation_p.G206V|MUTYH_uc001cnf.2_Missense_Mutation_p.G356V|MUTYH_uc009vxo.2_Missense_Mutation_p.G356V|MUTYH_uc001cng.2_Missense_Mutation_p.G367V|MUTYH_uc001cnj.2_Missense_Mutation_p.G264V|MUTYH_uc001cni.2_Missense_Mutation_p.G356V|MUTYH_uc001cnh.2_Missense_Mutation_p.G357V|MUTYH_uc001cno.2_Missense_Mutation_p.G264V|MUTYH_uc001cnk.2_Missense_Mutation_p.G241V|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.G370V|MUTYH_uc009vxp.2_Missense_Mutation_p.G384V|MUTYH_uc001cnn.2_Missense_Mutation_p.G371V	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	381	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					AATTTGGGCCCCAAGGGCCCC	0.612			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
MMACHC	25974	broad.mit.edu	37	1	45973942	45973942	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:45973942G>A	uc009vxv.2	+	3	484	c.335G>A	c.(334-336)CGC>CAC	p.R112H	MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	112							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAACCGACGCCCCAAGATC	0.562												
CCDC17	149483	broad.mit.edu	37	1	46086449	46086449	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:46086449C>T	uc010olt.1	-	12	1804	c.1656G>A	c.(1654-1656)CAG>CAA	p.Q552Q	CCDC17_uc009vxy.2_Silent_p.Q520Q|CCDC17_uc010ols.1_Silent_p.Q543Q|CCDC17_uc001com.3_Silent_p.Q373Q|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	552										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTGTCTGTACAGCTG	0.542												
SLC5A9	200010	broad.mit.edu	37	1	48701405	48701405	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:48701405G>A	uc001cro.2	+	10	1198	c.1146G>A	c.(1144-1146)CTG>CTA	p.L382L	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L407L|SLC5A9_uc010omt.1_Silent_p.L396L|SLC5A9_uc001crp.2_Silent_p.L49L|SLC5A9_uc010omu.1_Silent_p.L49L	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	382	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCCCAGGTCTGCGGGGGCTGA	0.582												
C8B	732	broad.mit.edu	37	1	57420464	57420464	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:57420464T>C	uc001cyp.2	-	4	495	c.428A>G	c.(427-429)GAC>GGC	p.D143G	C8B_uc010oon.1_Missense_Mutation_p.D81G|C8B_uc010ooo.1_Missense_Mutation_p.D91G	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	143	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ACAGTCATTGTCCCCATTGCA	0.433												
DAB1	1600	broad.mit.edu	37	1	57476396	57476396	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:57476396T>C	uc001cys.1	-	16	2314	c.1640A>G	c.(1639-1641)GAT>GGT	p.D547G	DAB1_uc001cyt.1_Missense_Mutation_p.D545G|DAB1_uc001cyq.1_Missense_Mutation_p.D545G|DAB1_uc001cyr.1_Missense_Mutation_p.D461G|DAB1_uc009vzw.1_Missense_Mutation_p.D529G|DAB1_uc009vzx.1_Missense_Mutation_p.D547G	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	580					cell differentiation|nervous system development					skin(2)|ovary(1)	3						ACTTATATTATCACCACTGGG	0.458												
JUN	3725	broad.mit.edu	37	1	59247823	59247823	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:59247823T>C	uc001cze.2	-	1	1963	c.920A>G	c.(919-921)CAG>CGG	p.Q307R	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	307	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CTGTTTAAGCTGTGCCACCTG	0.532			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INADL	10207	broad.mit.edu	37	1	62455951	62455951	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:62455951G>A	uc001dab.2	+	28	3896	c.3782G>A	c.(3781-3783)CGC>CAC	p.R1261H	INADL_uc009waf.1_Missense_Mutation_p.R1261H|INADL_uc001daa.2_Missense_Mutation_p.R1261H|INADL_uc001dad.3_Missense_Mutation_p.R958H|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.R45H|INADL_uc009wag.2_Missense_Mutation_p.R45H|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1261	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GACCGATCACGCATGAGCATA	0.453												
INADL	10207	broad.mit.edu	37	1	62550223	62550223	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:62550223C>T	uc001dab.2	+	33	4394	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	INADL_uc009waf.1_Missense_Mutation_p.T1427M|INADL_uc001daa.2_Missense_Mutation_p.T1427M|INADL_uc001dad.3_Missense_Mutation_p.T1124M|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.T211M|INADL_uc009wag.2_Missense_Mutation_p.T211M|INADL_uc010oou.1_Missense_Mutation_p.T100M	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1427					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GACCCCGCAACGTGTCCCATT	0.512												
ANGPTL3	27329	broad.mit.edu	37	1	63070402	63070402	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:63070402T>C	uc001das.1	+	7	1348	c.1297T>C	c.(1297-1299)TCT>CCT	p.S433P	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	433	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						AAGAGGATTATCTTGGAAGTC	0.378												
SLC44A5	204962	broad.mit.edu	37	1	75740675	75740675	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:75740675G>A	uc001dgu.2	-	6	372	c.228C>T	c.(226-228)GGC>GGT	p.G76G	SLC44A5_uc001dgt.2_Silent_p.G76G|SLC44A5_uc001dgs.2_Silent_p.G34G|SLC44A5_uc001dgr.2_Silent_p.G34G|SLC44A5_uc010oqz.1_Silent_p.G115G|SLC44A5_uc010ora.1_Silent_p.G70G|SLC44A5_uc010orb.1_Intron	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	76	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						CACAAAAGTGGCCCTGGCTGT	0.478												
ACADM	34	broad.mit.edu	37	1	76215155	76215155	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:76215155G>T	uc001dgw.3	+	9	1190	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	ACADM_uc010ord.1_Missense_Mutation_p.D168Y|ACADM_uc009wbp.2_Missense_Mutation_p.D258Y|ACADM_uc009wbr.2_Missense_Mutation_p.D287Y|ACADM_uc010ore.1_Missense_Mutation_p.D218Y|ACADM_uc010orf.1_Missense_Mutation_p.D65Y|ACADM_uc001dgx.3_Missense_Mutation_p.D168Y|ACADM_uc010org.1_Missense_Mutation_p.D124Y|ACADM_uc009wbs.1_RNA	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	254					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TGTCTTCGAAGATGTGAAAGT	0.348												
GIPC2	54810	broad.mit.edu	37	1	78585146	78585146	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:78585146G>A	uc001dik.2	+	4	867	c.677G>A	c.(676-678)CGC>CAC	p.R226H		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	226						cytoplasm				ovary(1)	1						GCAACACTTCGCCTGAGATCA	0.398												
LPHN2	23266	broad.mit.edu	37	1	82456582	82456582	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:82456582T>G	uc001dit.3	+	21	4146	c.3965T>G	c.(3964-3966)CTT>CGT	p.L1322R	LPHN2_uc001dis.2_Missense_Mutation_p.L302R|LPHN2_uc001diu.2_Missense_Mutation_p.L1322R|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1378	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCCCAATCTTAGAGACTCT	0.468												
COL24A1	255631	broad.mit.edu	37	1	86515849	86515849	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:86515849G>T	uc001dlj.2	-	11	1905	c.1863C>A	c.(1861-1863)GGC>GGA	p.G621G	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.G621G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	621					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCCAGGAGAGCCAATAAAAC	0.343												
PKN2	5586	broad.mit.edu	37	1	89237165	89237165	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:89237165A>G	uc001dmn.2	+	5	1026	c.684A>G	c.(682-684)ATA>ATG	p.I228M	PKN2_uc001dmm.1_Missense_Mutation_p.I228M|PKN2_uc010osp.1_Missense_Mutation_p.I228M|PKN2_uc010osq.1_Missense_Mutation_p.I71M|PKN2_uc009wcv.2_Missense_Mutation_p.I228M	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	228	REM 3.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTTTAGGATAGAGTTTGCAG	0.323												
LRRC8D	55144	broad.mit.edu	37	1	90399442	90399442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:90399442G>A	uc001dnm.2	+	3	1240	c.815G>A	c.(814-816)AGC>AAC	p.S272N	LRRC8D_uc001dnn.2_Missense_Mutation_p.S272N	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	272						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAAGTTCCCAGCATGACAATC	0.458												
LPPR4	9890	broad.mit.edu	37	1	99771789	99771789	+	Silent	SNP	G	G	A	rs148412092		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:99771789G>A	uc001dse.2	+	7	1621	c.1515G>A	c.(1513-1515)CAG>CAA	p.Q505Q	LPPR4_uc010oue.1_Silent_p.Q447Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	505							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCAAAATCCAGCCTGGCGCTG	0.567												
LPPR4	9890	broad.mit.edu	37	1	99771907	99771907	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:99771907A>C	uc001dse.2	+	7	1739	c.1633A>C	c.(1633-1635)AGC>CGC	p.S545R	LPPR4_uc010oue.1_Missense_Mutation_p.S487R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	545							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGAAAACATAAGCACCTCCCC	0.537												
PALMD	54873	broad.mit.edu	37	1	100154805	100154805	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100154805G>A	uc001dsg.2	+	7	1432	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	PALMD_uc001dsf.2_Missense_Mutation_p.R330Q	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	330					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCTCATCCCCGATCAGTGATT	0.468												
AGL	178	broad.mit.edu	37	1	100347173	100347173	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100347173C>A	uc001dsi.1	+	17	2634	c.2234C>A	c.(2233-2235)GCT>GAT	p.A745D	AGL_uc001dsj.1_Missense_Mutation_p.A745D|AGL_uc001dsk.1_Missense_Mutation_p.A745D|AGL_uc001dsl.1_Missense_Mutation_p.A745D|AGL_uc001dsm.1_Missense_Mutation_p.A729D|AGL_uc001dsn.1_Missense_Mutation_p.A728D	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	745	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCTGTTGTGGCTGTATCTAGA	0.418												
AGL	178	broad.mit.edu	37	1	100378009	100378009	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100378009C>T	uc001dsi.1	+	29	4285	c.3885C>T	c.(3883-3885)CGC>CGT	p.R1295R	AGL_uc001dsj.1_Silent_p.R1295R|AGL_uc001dsk.1_Silent_p.R1295R|AGL_uc001dsl.1_Silent_p.R1295R|AGL_uc001dsm.1_Silent_p.R1279R|AGL_uc001dsn.1_Silent_p.R1278R	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1295	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGCTGTTCGCTGGTTGCTGG	0.338												
AGL	178	broad.mit.edu	37	1	100387188	100387188	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100387188A>G	uc001dsi.1	+	34	4980	c.4580A>G	c.(4579-4581)GAG>GGG	p.E1527G	AGL_uc001dsj.1_Missense_Mutation_p.E1527G|AGL_uc001dsk.1_Missense_Mutation_p.E1527G|AGL_uc001dsl.1_Missense_Mutation_p.E1527G|AGL_uc001dsm.1_Missense_Mutation_p.E1511G|AGL_uc001dsn.1_Missense_Mutation_p.E1510G	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1527	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACTATTCTTGAGACACTTTAT	0.378												
DBT	1629	broad.mit.edu	37	1	100661908	100661908	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100661908T>C	uc001dta.2	-	11	1385	c.1352A>G	c.(1351-1353)GAT>GGT	p.D451G	DBT_uc010oug.1_Missense_Mutation_p.D270G	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	451					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACTCTGTGATCAGCTGACCA	0.323												
DBT	1629	broad.mit.edu	37	1	100684199	100684199	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100684199G>A	uc001dta.2	-	5	571	c.538C>T	c.(538-540)CTG>TTG	p.L180L	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	180					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCATTGCCAGACGGCGAACT	0.393												
VCAM1	7412	broad.mit.edu	37	1	101200253	101200253	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:101200253C>T	uc001dti.2	+	8	2108	c.1988C>T	c.(1987-1989)GCG>GTG	p.A663V	VCAM1_uc001dtj.2_Missense_Mutation_p.A571V|VCAM1_uc010ouj.1_Missense_Mutation_p.A601V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	663	Ig-like C2-type 7.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTGAAGGATGCGGGAGTATAT	0.378												
COL11A1	1301	broad.mit.edu	37	1	103540264	103540264	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:103540264C>T	uc001dul.2	-	4	879	c.561G>A	c.(559-561)ACG>ACA	p.T187T	COL11A1_uc001dum.2_Silent_p.T187T|COL11A1_uc001dun.2_Silent_p.T187T|COL11A1_uc009weh.2_Silent_p.T187T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	187	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAAGTGGTTTCGTGGTTTTCT	0.358												
AMY2B	280	broad.mit.edu	37	1	104114744	104114744	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:104114744A>T	uc001duq.2	+	4	797	c.181A>T	c.(181-183)AAT>TAT	p.N61Y	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N61Y	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	61					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTCTCCACCAAATGAAAATGT	0.313												
CELSR2	1952	broad.mit.edu	37	1	109814954	109814954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:109814954G>A	uc001dxa.3	+	29	8042	c.7981G>A	c.(7981-7983)GAC>AAC	p.D2661N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2661	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCTACGGAGACTCGGCCGG	0.627												
RBM15	64783	broad.mit.edu	37	1	110884271	110884271	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:110884271C>A	uc001dzl.1	+	1	2327	c.2244C>A	c.(2242-2244)CGC>CGA	p.R748R	RBM15_uc001dzm.1_Silent_p.R748R|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	748					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGAAGACCGCTCTGATGGGA	0.557			T	MKL1	acute megakaryocytic leukemia							
KCND3	3752	broad.mit.edu	37	1	112321089	112321089	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:112321089G>T	uc001ebu.1	-	6	1967	c.1487C>A	c.(1486-1488)CCC>CAC	p.P496H	KCND3_uc001ebv.1_Intron	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	496	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGATAACAGGGGATCATCCAC	0.398												
HIPK1	204851	broad.mit.edu	37	1	114512812	114512812	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:114512812G>T	uc001eem.2	+	14	3167	c.3006G>T	c.(3004-3006)CAG>CAT	p.Q1002H	HIPK1_uc001eel.2_Missense_Mutation_p.Q1002H|HIPK1_uc001een.2_Missense_Mutation_p.Q1002H|HIPK1_uc001eeo.2_Missense_Mutation_p.Q628H|HIPK1_uc001eep.2_Missense_Mutation_p.Q608H|HIPK1_uc001eeq.2_Missense_Mutation_p.Q294H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1002	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCAACCCAGGCCTCAGGTC	0.478												
HIPK1	204851	broad.mit.edu	37	1	114515787	114515787	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:114515787C>A	uc001eem.2	+	16	3447	c.3286C>A	c.(3286-3288)CCA>ACA	p.P1096T	HIPK1_uc001een.2_Missense_Mutation_p.P1096T|HIPK1_uc001eeo.2_Missense_Mutation_p.P722T|HIPK1_uc001eep.2_Missense_Mutation_p.P702T|HIPK1_uc001eeq.2_Missense_Mutation_p.P388T	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGGGCACCCACACCTTGC	0.652												
ADAM30	11085	broad.mit.edu	37	1	120438692	120438692	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120438692C>T	uc001eij.2	-	1	422	c.268G>A	c.(268-270)GTT>ATT	p.V90I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	90					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGGAGAAAACGCGCAGATGT	0.517												
NOTCH2	4853	broad.mit.edu	37	1	120458008	120458008	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120458008C>A	uc001eik.2	-	34	7593	c.7337G>T	c.(7336-7338)GGG>GTG	p.G2446V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2446	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGCACCCCCAGGGGTAGG	0.582			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
NOTCH2	4853	broad.mit.edu	37	1	120479990	120479990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120479990C>T	uc001eik.2	-	21	3693	c.3437G>A	c.(3436-3438)TGT>TAT	p.C1146Y	NOTCH2_uc001eil.2_Missense_Mutation_p.C1146Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1146	EGF-like 29.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCTCCTCACAGTAGCTCCC	0.557			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
NOTCH2	4853	broad.mit.edu	37	1	120510772	120510772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120510772G>A	uc001eik.2	-	7	1448	c.1192C>T	c.(1192-1194)CAA>TAA	p.Q398*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.Q398*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.Q315*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	398	EGF-like 10.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATATATTGCCCATTTAGG	0.517			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDE4DIP	9659	broad.mit.edu	37	1	145039616	145039616	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145039616G>T	uc001elx.3	-	1	329	c.-6C>A	c.(-8--4)GCCTG>GCATG		NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_Translation_Start_Site|PDE4DIP_uc001eln.3_Translation_Start_Site|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATTTTCCAGGCTCTTTCCT	0.612			T	PDGFRB	MPD							
ITGA10	8515	broad.mit.edu	37	1	145532147	145532147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145532147G>A	uc001eoa.2	+	8	867	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R133Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R121Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R209Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	264	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGGGGGCCGACCCGAGGCT	0.488												
POLR3C	10623	broad.mit.edu	37	1	145594051	145594051	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145594051C>T	uc001eoh.2	-	14	1672	c.1511G>A	c.(1510-1512)CGT>CAT	p.R504H	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Missense_Mutation_p.R517H|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	504					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTTGACATTACGTTTCAGGGT	0.443												
NBPF14	25832	broad.mit.edu	37	1	148015781	148015781	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:148015781G>A	uc001eqq.2	-	8	867	c.850C>T	c.(850-852)CTG>TTG	p.L284L	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.L163L	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	284	NBPF 3.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					TTCTCATCCAGCAGCTCTCTG	0.483												
PLEKHO1	51177	broad.mit.edu	37	1	150131688	150131688	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150131688G>A	uc001ett.2	+	6	1478	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	PLEKHO1_uc001etr.2_Silent_p.P228P|PLEKHO1_uc001ets.2_Silent_p.P217P|PLEKHO1_uc001etu.2_Silent_p.P228P	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	400	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|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)			AGACCACCCCGCACAGTCAGT	0.582												
C1orf51	148523	broad.mit.edu	37	1	150259051	150259051	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150259051T>C	uc001euh.2	+	6	979	c.843T>C	c.(841-843)CAT>CAC	p.H281H	C1orf51_uc001eui.2_Silent_p.H193H|C1orf51_uc001euj.2_Silent_p.H281H	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	281											0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTTAGCCATGGTCCTTTAG	0.562												
ADAMTSL4	54507	broad.mit.edu	37	1	150530584	150530584	+	Missense_Mutation	SNP	C	C	T	rs149442347	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150530584C>T	uc001eux.2	+	14	2577	c.2341C>T	c.(2341-2343)CGC>TGC	p.R781C	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R781C|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R804C|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R742C|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	781	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGCCAGCTGCGCCTCTGTGG	0.647												
POGZ	23126	broad.mit.edu	37	1	151378679	151378679	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:151378679A>T	uc001eyd.1	-	19	3138	c.2832T>A	c.(2830-2832)GAT>GAA	p.D944E	POGZ_uc001eye.1_Missense_Mutation_p.D891E|POGZ_uc010pdb.1_Missense_Mutation_p.D935E|POGZ_uc001eyf.1_Missense_Mutation_p.D900E|POGZ_uc010pdc.1_Missense_Mutation_p.D882E|POGZ_uc009wmv.1_Missense_Mutation_p.D849E|POGZ_uc010pdd.1_Missense_Mutation_p.D435E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	944					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCATCCTGATCATCAACAT	0.567												
FLG	2312	broad.mit.edu	37	1	152279744	152279744	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152279744G>A	uc001ezu.1	-	3	7654	c.7618C>T	c.(7618-7620)CGG>TGG	p.R2540W		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2540	Ser-rich.|Filaggrin 15.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGGCCCGAGAGGAAGCT	0.582									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152279848	152279848	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152279848T>C	uc001ezu.1	-	3	7550	c.7514A>G	c.(7513-7515)CAT>CGT	p.H2505R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2505	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCCATGGGAGGCATC	0.552									Ichthyosis			
LCE3D	84648	broad.mit.edu	37	1	152552263	152552263	+	Silent	SNP	G	G	A	rs139649941		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152552263G>A	uc001fab.2	-	2	207	c.150C>T	c.(148-150)GGC>GGT	p.G50G		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	50					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGAAGCAGCCGCCCTCGGAGC	0.672												
KPRP	448834	broad.mit.edu	37	1	152733277	152733277	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152733277C>T	uc001fal.1	+	2	1271	c.1213C>T	c.(1213-1215)CGT>TGT	p.R405C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	405	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCTCCACGTCCACGTCT	0.572												
AQP10	89872	broad.mit.edu	37	1	154295722	154295722	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:154295722C>A	uc001feu.2	+	4	416	c.376C>A	c.(376-378)CTA>ATA	p.L126I	AQP10_uc001fev.2_Missense_Mutation_p.L126I|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	126	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAGATGCCCTACAGAACTA	0.547												
TDRD10	126668	broad.mit.edu	37	1	154517360	154517360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:154517360G>A	uc009wow.2	+	11	1725	c.887G>A	c.(886-888)CGC>CAC	p.R296H	TDRD10_uc001ffd.2_Missense_Mutation_p.R296H|TDRD10_uc001ffe.2_Missense_Mutation_p.R217H	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	296	Tudor.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTCTCTGCGCAGCCTAGAC	0.552												
FDPS	2224	broad.mit.edu	37	1	155290383	155290383	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155290383T>C	uc001fkc.2	+	11	1462	c.1243T>C	c.(1243-1245)TAC>CAC	p.Y415H	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y349H|FDPS_uc001fke.2_Missense_Mutation_p.Y415H|FDPS_uc001fkf.2_Missense_Mutation_p.Y349H|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	415					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCGCAAAATCTACAAGCGGAG	0.517												
ASH1L	55870	broad.mit.edu	37	1	155450513	155450513	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155450513T>G	uc009wqq.2	-	3	2628	c.2148A>C	c.(2146-2148)AAA>AAC	p.K716N	ASH1L_uc001fkt.2_Missense_Mutation_p.K716N|ASH1L_uc009wqr.1_Missense_Mutation_p.K716N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	716					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)			TCCACCGAGGTTTTCTTCCTT	0.418												
MEX3A	92312	broad.mit.edu	37	1	156046580	156046580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156046580G>A	uc001fnd.3	-	2	1348	c.1348C>T	c.(1348-1350)CAG>TAG	p.Q450*		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	450						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGAAGCCCTGGAGCGGCTCT	0.741												
SMG5	23381	broad.mit.edu	37	1	156222250	156222250	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156222250C>T	uc001foc.3	-	19	2857	c.2708G>A	c.(2707-2709)CGG>CAG	p.R903Q	SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	903	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATCCCATCCCGGGCCCCTGG	0.532												
ARHGEF11	9826	broad.mit.edu	37	1	156916756	156916756	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156916756T>C	uc001fqo.2	-	26	3460	c.2420A>G	c.(2419-2421)AAA>AGA	p.K807R	ARHGEF11_uc010phu.1_Missense_Mutation_p.K223R|ARHGEF11_uc001fqn.2_Missense_Mutation_p.K847R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	807	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTGATCTCTTTGATGATGGG	0.552												
CD1E	913	broad.mit.edu	37	1	158324361	158324361	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158324361T>G	uc001fse.2	+	2	492	c.253T>G	c.(253-255)TTC>GTC	p.F85V	CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	85					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCATGGAAACTTCAGCAAGCA	0.498												
OR10K2	391107	broad.mit.edu	37	1	158390296	158390296	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158390296C>A	uc010pii.1	-	1	361	c.361G>T	c.(361-363)GAT>TAT	p.D121Y		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					ATGTAACGATCATAACCCATG	0.517												
SPTA1	6708	broad.mit.edu	37	1	158596785	158596785	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158596785C>T	uc001fst.1	-	41	5876	c.5677G>A	c.(5677-5679)GAA>AAA	p.E1893K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1893	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTCTGACTTTCCTCCTGCAAC	0.423												
SPTA1	6708	broad.mit.edu	37	1	158639574	158639574	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158639574A>G	uc001fst.1	-	13	1801	c.1602T>C	c.(1600-1602)ACT>ACC	p.T534T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	534	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTTGTCTACAGTCTGAAAAA	0.403												
PYHIN1	149628	broad.mit.edu	37	1	158913704	158913704	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158913704G>T	uc001ftb.2	+	6	1372	c.1127G>T	c.(1126-1128)TGC>TTC	p.C376F	PYHIN1_uc001ftc.2_Missense_Mutation_p.C367F|PYHIN1_uc001ftd.2_Missense_Mutation_p.C376F|PYHIN1_uc001fte.2_Missense_Mutation_p.C367F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	376	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					CGACTCTTCTGCTTTCGACTG	0.363												
IGSF9	57549	broad.mit.edu	37	1	159899451	159899451	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:159899451C>T	uc001fur.2	-	17	2501	c.2303G>A	c.(2302-2304)CGC>CAC	p.R768H	IGSF9_uc001fuq.2_Missense_Mutation_p.R752H|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	768	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGCGGCGGCGGCGGGCAGC	0.687												
ATP1A4	480	broad.mit.edu	37	1	160145892	160145892	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:160145892C>A	uc001fve.3	+	16	2801	c.2322C>A	c.(2320-2322)ATC>ATA	p.I774I	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.I277I|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	774	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCGCCTGATCTTTGACAACC	0.562												
ITLN1	55600	broad.mit.edu	37	1	160851041	160851041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:160851041G>A	uc001fxc.2	-	5	583	c.467C>T	c.(466-468)TCC>TTC	p.S156F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	156	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGCATGGGGGACTTATTGGG	0.572												
PVRL4	81607	broad.mit.edu	37	1	161042656	161042656	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:161042656C>T	uc001fxo.2	-	9	1627	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.R97H|PVRL4_uc010pjz.1_Missense_Mutation_p.R152H	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	443	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGAGTAACTGCGGCCCTCGGG	0.602												
NOS1AP	9722	broad.mit.edu	37	1	162336931	162336931	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:162336931C>A	uc001gbv.2	+	10	1582	c.1195C>A	c.(1195-1197)CTG>ATG	p.L399M	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.L394M|NOS1AP_uc009wut.1_Missense_Mutation_p.L104M	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	399					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCCAGAGGACCTGCATTCGCC	0.672												
POGK	57645	broad.mit.edu	37	1	166818871	166818871	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:166818871C>T	uc001gdt.1	+	5	1175	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	POGK_uc010ple.1_Missense_Mutation_p.A267V|POGK_uc010plf.1_Missense_Mutation_p.A234V	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTGCGCAGGGCGCATGACTAT	0.557												
BAT2L2	23215	broad.mit.edu	37	1	171494089	171494089	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:171494089A>G	uc010pmg.1	+	10	1445	c.1179A>G	c.(1177-1179)GGA>GGG	p.G393G	BAT2L2_uc001ghr.1_Silent_p.G395G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	393							protein C-terminus binding				0						ATGGGAAAGGACCTTCATTTA	0.358												
METTL13	51603	broad.mit.edu	37	1	171763606	171763606	+	Silent	SNP	G	G	A	rs111707385		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:171763606G>A	uc001ghz.2	+	7	2111	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	METTL13_uc001gia.2_Silent_p.P502P|METTL13_uc001gib.2_Silent_p.P432P|METTL13_uc010pml.1_Silent_p.P587P|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	588							methyltransferase activity|protein binding			kidney(1)	1						TGAGTTGTCCGCCCCCAGCAT	0.473												
C1orf9	51430	broad.mit.edu	37	1	172539198	172539198	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:172539198C>T	uc001giq.3	+	8	1184	c.868C>T	c.(868-870)CAT>TAT	p.H290Y	C1orf9_uc010pmm.1_Missense_Mutation_p.H290Y|C1orf9_uc009wwd.2_Missense_Mutation_p.H253Y|C1orf9_uc010pmn.1_Missense_Mutation_p.H253Y|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	290	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TCAGTCGATGCATGCATCTTC	0.358												
SLC9A11	284525	broad.mit.edu	37	1	173526624	173526624	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:173526624C>T	uc001giz.2	-	10	1493	c.1070G>A	c.(1069-1071)AGC>AAC	p.S357N	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	357					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CAAAATAGGGCTCACTAACAA	0.333												
TNN	63923	broad.mit.edu	37	1	175048603	175048603	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:175048603G>A	uc001gkl.1	+	3	657	c.544G>A	c.(544-546)GTG>ATG	p.V182M	TNN_uc010pmx.1_Missense_Mutation_p.V182M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	182	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGGCGTTGCGTGGACGGGCG	0.746												
TNN	63923	broad.mit.edu	37	1	175066603	175066603	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:175066603G>A	uc001gkl.1	+	8	1752	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	547	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGAATACCGCCACCATCTC	0.522												
ZNF648	127665	broad.mit.edu	37	1	182026251	182026251	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:182026251G>T	uc001goz.2	-	2	1103	c.895C>A	c.(895-897)CGC>AGC	p.R299S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	299	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGTGCAGGCGCCTGTGCTGC	0.706												
LAMC2	3918	broad.mit.edu	37	1	183204789	183204789	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:183204789C>T	uc001gqa.2	+	16	2694	c.2380C>T	c.(2380-2382)CGC>TGC	p.R794C	LAMC2_uc001gpz.3_Missense_Mutation_p.R794C|LAMC2_uc010poa.1_Missense_Mutation_p.R494C	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	794	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CTCACTGGTGCGCAAGGCCCT	0.537											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLT25D2	23127	broad.mit.edu	37	1	183944265	183944265	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:183944265C>G	uc001gqr.2	-	3	830	c.458G>C	c.(457-459)CGA>CCA	p.R153P	GLT25D2_uc010poj.1_Missense_Mutation_p.R153P|GLT25D2_uc001gqs.2_Missense_Mutation_p.R33P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	153					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CCTCGCAGTTCGAAGGGCTGC	0.423												
HMCN1	83872	broad.mit.edu	37	1	185970773	185970773	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:185970773G>A	uc001grq.1	+	28	4477	c.4248G>A	c.(4246-4248)CTG>CTA	p.L1416L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1416	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGAAGATACTGAAGCTCTTCA	0.398												
HMCN1	83872	broad.mit.edu	37	1	186092202	186092202	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:186092202C>T	uc001grq.1	+	81	12578	c.12349C>T	c.(12349-12351)CGT>TGT	p.R4117C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4117	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGATGGGCGTGCAATTGT	0.512												
CFHR3	10878	broad.mit.edu	37	1	196759259	196759259	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:196759259C>T	uc001gtl.2	+	5	785	c.698C>T	c.(697-699)TCA>TTA	p.S233L	CFHR3_uc010poy.1_Missense_Mutation_p.S172L|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	233	Sushi 4.					extracellular space					0						GTGCCACAGTCAAGAGTCGAG	0.423												
ASPM	259266	broad.mit.edu	37	1	197071707	197071707	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:197071707G>T	uc001gtu.2	-	18	6931	c.6674C>A	c.(6673-6675)GCA>GAA	p.A2225E	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A73E	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2225					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCTTTCATTGCCCAGTATCT	0.328												
CRB1	23418	broad.mit.edu	37	1	197396685	197396685	+	Nonsense_Mutation	SNP	C	C	T	rs150412614		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:197396685C>T	uc001gtz.2	+	7	2365	c.2230C>T	c.(2230-2232)CGA>TGA	p.R744*	CRB1_uc010poz.1_Nonsense_Mutation_p.R675*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R632*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R225*|CRB1_uc001gub.1_Nonsense_Mutation_p.R393*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	744	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CATGTTTGTCCGAACGCTTCA	0.483												
GPR37L1	9283	broad.mit.edu	37	1	202092388	202092388	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:202092388G>A	uc001gxj.2	+	1	360	c.297G>A	c.(295-297)GGG>GGA	p.G99G		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	99	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CAGACAGTGGGCAGGAACTGA	0.637												
LGR6	59352	broad.mit.edu	37	1	202288271	202288271	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:202288271G>A	uc001gxu.2	+	18	2840	c.2840G>A	c.(2839-2841)GGT>GAT	p.G947D	LGR6_uc001gxv.2_Missense_Mutation_p.G895D|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.G808D	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						ACGCCAGCAGGTGGAGGCTTG	0.498												
MYBPH	4608	broad.mit.edu	37	1	203139557	203139557	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:203139557G>A	uc001gzh.1	-	7	1014	c.955C>T	c.(955-957)CGC>TGC	p.R319C	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	319	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGTGGTAGCGCTCCAGCACT	0.587												
ZC3H11A	9877	broad.mit.edu	37	1	203797471	203797471	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:203797471A>G	uc001hac.2	+	7	835	c.219A>G	c.(217-219)ACA>ACG	p.T73T	ZC3H11A_uc001had.2_Silent_p.T73T|ZC3H11A_uc001hae.2_Silent_p.T73T|ZC3H11A_uc001haf.2_Silent_p.T73T|ZC3H11A_uc010pqm.1_Silent_p.T19T|ZC3H11A_uc001hag.1_Silent_p.T73T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	73	C3H1-type 3.						nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCAGCCAACAGGATGTCAAA	0.358												
NFASC	23114	broad.mit.edu	37	1	204948558	204948558	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:204948558G>A	uc001hbj.2	+	19	2375	c.2047G>A	c.(2047-2049)GGC>AGC	p.G683S	NFASC_uc010pra.1_Missense_Mutation_p.G679S|NFASC_uc001hbi.2_Missense_Mutation_p.G679S|NFASC_uc010prb.1_Missense_Mutation_p.G694S|NFASC_uc010prc.1_Missense_Mutation_p.G250S|NFASC_uc001hbk.1_Missense_Mutation_p.G489S|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	683	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAAGTACCCCGGCAGCGTTAA	0.572												
SLC26A9	115019	broad.mit.edu	37	1	205892468	205892468	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:205892468C>T	uc001hdq.2	-	15	1768	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC26A9_uc001hdo.2_Missense_Mutation_p.A220T|SLC26A9_uc001hdp.2_Missense_Mutation_p.A552T	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	552	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTACCTTGGCGATGACCTTT	0.557												
CR2	1380	broad.mit.edu	37	1	207651401	207651401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207651401C>T	uc001hfw.2	+	15	2991	c.2897C>T	c.(2896-2898)GCG>GTG	p.A966V	CR2_uc001hfv.2_Missense_Mutation_p.A1025V|CR2_uc009xch.2_Missense_Mutation_p.A904V	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	966	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCTCCCCTGGCGGTTTGCAGA	0.552												
CR1	1378	broad.mit.edu	37	1	207669657	207669657	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207669657G>A	uc001hfy.2	+	1	185	c.45G>A	c.(43-45)CCG>CCA	p.P15P	CR1_uc009xcl.1_Silent_p.P15P|CR1_uc001hfx.2_Silent_p.P15P|CR1_uc010psg.1_Silent_p.P15P|CR1_uc009xcj.1_Silent_p.P15P|CR1_uc009xck.1_Silent_p.P15P	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	15					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCGGGCCGCCGGCGCCCGGTC	0.637												
LAMB3	3914	broad.mit.edu	37	1	209790919	209790919	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:209790919G>A	uc001hhg.2	-	20	3454	c.3064C>T	c.(3064-3066)CTG>TTG	p.L1022L	LAMB3_uc009xco.2_Silent_p.L1022L|LAMB3_uc001hhh.2_Silent_p.L1022L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1022	Domain I.|Potential.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTGGCCGCAGTACCTGCTGA	0.582												
INTS7	25896	broad.mit.edu	37	1	212141284	212141284	+	Nonsense_Mutation	SNP	G	G	A	rs147974722		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:212141284G>A	uc001hiw.1	-	15	2155	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	INTS7_uc009xdb.1_Nonsense_Mutation_p.R684*|INTS7_uc001hix.1_Nonsense_Mutation_p.R560*|INTS7_uc001hiy.1_Nonsense_Mutation_p.R684*|INTS7_uc010pta.1_Nonsense_Mutation_p.R635*	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	684					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTCCATATCGAGAAGCAAGG	0.353												
PROX1	5629	broad.mit.edu	37	1	214169895	214169895	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:214169895G>A	uc001hkh.2	+	2	289	c.17G>A	c.(16-18)AGC>AAC	p.S6N	PROX1_uc001hkg.1_Missense_Mutation_p.S6N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	6					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACCATGACAGCACAGCCCTC	0.512												
MOSC2	54996	broad.mit.edu	37	1	220928350	220928350	+	Missense_Mutation	SNP	G	G	A	rs145299584	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:220928350G>A	uc001hmq.2	+	2	532	c.334G>A	c.(334-336)GTG>ATG	p.V112M	MOSC2_uc001hmr.2_Missense_Mutation_p.V112M|MOSC2_uc009xdx.2_Missense_Mutation_p.V112M	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	112						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		GCCTCGCCTCGTGCTCATCTC	0.502												
C1orf65	164127	broad.mit.edu	37	1	223568121	223568121	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223568121T>G	uc001hoa.2	+	1	1407	c.1304T>G	c.(1303-1305)GTC>GGC	p.V435G		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	435	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GCCCGGAAGGTCCTCATGGAC	0.597												
TP53BP2	7159	broad.mit.edu	37	1	223989893	223989893	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223989893T>C	uc010pvb.1	-	9	1442	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	TP53BP2_uc001hod.2_Missense_Mutation_p.I255V|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_Missense_Mutation_p.I23V	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	378					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GAAGCCTGAATGACCAAGGAA	0.527												
ENAH	55740	broad.mit.edu	37	1	225707109	225707109	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:225707109C>T	uc001hpc.1	-	5	1046	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	ENAH_uc001hpd.1_Missense_Mutation_p.R198Q	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	198	Potential.|9.|9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ctgccgttccCGTTCTTGTct	0.1												
ITPKB	3707	broad.mit.edu	37	1	226835021	226835021	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:226835021C>T	uc010pvo.1	-	4	2433	c.2093G>A	c.(2092-2094)CGC>CAC	p.R698H		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	698							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GTCCAGGCAGCGCTGCTCTGA	0.592												
CABC1	56997	broad.mit.edu	37	1	227152799	227152799	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:227152799C>T	uc001hqm.1	+	8	3695	c.276C>T	c.(274-276)GAC>GAT	p.D92D	CABC1_uc010pvp.1_Silent_p.D55D|CABC1_uc001hqn.1_Silent_p.D92D|CABC1_uc009xeq.1_Silent_p.D40D|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	92					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCTCCACAGACTTCTCTTCAG	0.602												
OBSCN	84033	broad.mit.edu	37	1	228462328	228462328	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:228462328C>T	uc009xez.1	+	20	5783	c.5739C>T	c.(5737-5739)GGC>GGT	p.G1913G	OBSCN_uc001hsn.2_Silent_p.G1913G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1913	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGAGGAGGGCGGCGAGGCCA	0.632												
OBSCN	84033	broad.mit.edu	37	1	228509885	228509885	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:228509885C>T	uc009xez.1	+	55	15387	c.15343C>T	c.(15343-15345)CCA>TCA	p.P5115S	OBSCN_uc001hsn.2_Missense_Mutation_p.P5115S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5115					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCTCCAGAGCCATTGCCCAG	0.612												
URB2	9816	broad.mit.edu	37	1	229772212	229772212	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:229772212G>A	uc001hts.1	+	4	1988	c.1852G>A	c.(1852-1854)GCT>ACT	p.A618T	URB2_uc009xfd.1_Missense_Mutation_p.A618T	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	618						nucleolus				central_nervous_system(2)|ovary(1)	3						CCAGGTGGACGCTATGTTCAG	0.572												
AGT	183	broad.mit.edu	37	1	230846219	230846219	+	Silent	SNP	G	G	A	rs143232180		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:230846219G>A	uc001hty.3	-	2	886	c.378C>T	c.(376-378)GGC>GGT	p.G126G	AGT_uc009xfe.2_Silent_p.G126G|AGT_uc009xff.2_Silent_p.G98G	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	126					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CATGGACCACGCCCCATAGCT	0.582												
DISC1	27185	broad.mit.edu	37	1	231830305	231830305	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:231830305T>G	uc001huz.2	+	2	854	c.801T>G	c.(799-801)AGT>AGG	p.S267R	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.S267R|DISC1_uc010pwp.1_Missense_Mutation_p.S267R|DISC1_uc010pwq.1_Missense_Mutation_p.S267R|DISC1_uc010pwr.1_Missense_Mutation_p.S267R|DISC1_uc010pws.1_Missense_Mutation_p.S267R|DISC1_uc010pwt.1_Missense_Mutation_p.S267R|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.S267R|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.S267R|DISC1_uc010pxb.1_Missense_Mutation_p.S267R|DISC1_uc010pxc.1_Missense_Mutation_p.S267R|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.S267R|DISC1_uc009xfr.2_Missense_Mutation_p.S222R|DISC1_uc010pxf.1_Missense_Mutation_p.S267R|DISC1_uc010pxg.1_Missense_Mutation_p.S267R|DISC1_uc010pxh.1_Missense_Mutation_p.S267R|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S267R|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.S267R|DISC1_uc010pwm.1_Missense_Mutation_p.S267R|DISC1_uc001hux.1_Missense_Mutation_p.S267R|DISC1_uc001hvc.3_Missense_Mutation_p.S267R|DISC1_uc010pwn.1_Missense_Mutation_p.S267R	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	267	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCTTCAGTCTCTTGGCTA	0.617												
DISC1	27185	broad.mit.edu	37	1	232144539	232144539	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:232144539G>T	uc001huz.2	+	11	2104	c.2051G>T	c.(2050-2052)TGT>TTT	p.C684F	TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Missense_Mutation_p.C329F|DISC1_uc010pxe.1_Missense_Mutation_p.C684F|DISC1_uc009xfr.2_Missense_Mutation_p.C639F|DISC1_uc010pxf.1_Missense_Mutation_p.V664F|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Missense_Mutation_p.C716F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.C329F|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.C562F|DISC1_uc010pxn.1_Missense_Mutation_p.C329F|DISC1_uc001hva.2_Missense_Mutation_p.C684F	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	684	Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGCTGCAAGTGTCCACTGCTT	0.478												
PCNXL2	80003	broad.mit.edu	37	1	233397814	233397814	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:233397814A>G	uc001hvl.2	-	3	692	c.457T>C	c.(457-459)TCT>CCT	p.S153P	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	153						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGTGATGAGAGGTTATGCTT	0.493												
SLC35F3	148641	broad.mit.edu	37	1	234041293	234041293	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:234041293G>A	uc001hvy.1	+	2	217	c.72G>A	c.(70-72)CCG>CCA	p.P24P		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	Error:Variant_position_missing_in_Q8IY50_after_alignment					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGAGGTCACCGGACGTCAGCC	0.647												
GGPS1	9453	broad.mit.edu	37	1	235505516	235505516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:235505516C>T	uc001hwv.2	+	4	416	c.332C>T	c.(331-333)GCA>GTA	p.A111V	GGPS1_uc001hww.2_Missense_Mutation_p.A111V|GGPS1_uc001hwx.2_Missense_Mutation_p.A57V|GGPS1_uc001hwy.2_Missense_Mutation_p.A111V	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1 isoform A	111					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			CACCCAGATGCAGTGAAGCTT	0.448												
FMN2	56776	broad.mit.edu	37	1	240286542	240286542	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:240286542A>C	uc010pyd.1	+	2	1904	c.1679A>C	c.(1678-1680)AAG>ACG	p.K560T	FMN2_uc010pye.1_Missense_Mutation_p.K560T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	560					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAGCAGAGAAGTTTTGCTCC	0.512												
FMN2	56776	broad.mit.edu	37	1	240371894	240371894	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:240371894G>T	uc010pyd.1	+	5	4007	c.3782G>T	c.(3781-3783)GGA>GTA	p.G1261V	FMN2_uc010pye.1_Missense_Mutation_p.G1265V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1261	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGTGTGTGGATTTCTTCCT	0.542												
EXO1	9156	broad.mit.edu	37	1	242020674	242020674	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:242020674C>A	uc001hzh.2	+	7	973	c.433C>A	c.(433-435)CTC>ATC	p.L145I	EXO1_uc001hzi.2_Missense_Mutation_p.L145I|EXO1_uc001hzj.2_Missense_Mutation_p.L145I|EXO1_uc009xgq.2_Missense_Mutation_p.L145I	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	145	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTAGATTGCCTCGTGGCTCC	0.493								Direct_reversal_of_damage|Editing_and_processing_nucleases				
C1orf101	257044	broad.mit.edu	37	1	244643032	244643032	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:244643032G>A	uc001iam.2	+	5	331	c.272G>A	c.(271-273)CGC>CAC	p.R91H	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.R91H|C1orf101_uc010pym.1_5'UTR|C1orf101_uc010pyn.1_Missense_Mutation_p.R94H	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	91	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GAAGAAGAACGCTATTTATTT	0.313												
NLRP3	114548	broad.mit.edu	37	1	247582207	247582207	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:247582207C>T	uc001icr.2	+	3	249	c.111C>T	c.(109-111)GGC>GGT	p.G37G	NLRP3_uc001ics.2_Silent_p.G37G|NLRP3_uc001icu.2_Silent_p.G37G|NLRP3_uc001icw.2_Silent_p.G37G|NLRP3_uc001icv.2_Silent_p.G37G|NLRP3_uc010pyw.1_Silent_p.G35G|NLRP3_uc001ict.1_Silent_p.G35G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	37	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCAGAAGGGCTGCATCCCCC	0.567												
OR2G2	81470	broad.mit.edu	37	1	247752027	247752027	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:247752027C>A	uc010pyy.1	+	1	366	c.366C>A	c.(364-366)TCC>TCA	p.S122S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	122	Helical; Name=3; (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;0.017)			CTGTGATGTCCTGTGACCGCT	0.532												
OR2T8	343172	broad.mit.edu	37	1	248084575	248084575	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248084575G>A	uc010pzc.1	+	1	256	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTACTTGACCGGAAGTAAGGC	0.577												
OR2L2	26246	broad.mit.edu	37	1	248202020	248202020	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248202020A>C	uc001idw.2	+	1	547	c.451A>C	c.(451-453)AGC>CGC	p.S151R	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGATGATAAGCTCTATCAA	0.418												
OR2T33	391195	broad.mit.edu	37	1	248436861	248436861	+	Missense_Mutation	SNP	C	C	T	rs139302289	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248436861C>T	uc010pzi.1	-	1	256	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTACTTCCGGTCAAGTAG	0.567												
PFKP	5214	broad.mit.edu	37	10	3124609	3124609	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:3124609C>T	uc001igp.2	+	2	178	c.142C>T	c.(142-144)CGC>TGC	p.R48C	PFKP_uc001igq.2_Missense_Mutation_p.A13V|PFKP_uc009xhr.2_Missense_Mutation_p.R10C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	48	ATP (By similarity).				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGCCGTGGTGCGCATGGGTAT	0.413												
C10orf18	54906	broad.mit.edu	37	10	5782190	5782190	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5782190C>A	uc001iij.2	+	13	2682	c.2057C>A	c.(2056-2058)CCT>CAT	p.P686H	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	686										ovary(1)|central_nervous_system(1)	2						ACAAAAAGCCCTGAAGCAGCA	0.512												
C10orf18	54906	broad.mit.edu	37	10	5788819	5788819	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5788819G>A	uc001iij.2	+	15	4060	c.3435G>A	c.(3433-3435)ACG>ACA	p.T1145T	C10orf18_uc001iik.2_5'UTR	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1145										ovary(1)|central_nervous_system(1)	2						AGAAGGAGACGCCCCTTCCAG	0.448												
FBXO18	84893	broad.mit.edu	37	10	5959450	5959450	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5959450C>T	uc001iis.2	+	11	1951	c.1856C>T	c.(1855-1857)GCG>GTG	p.A619V	FBXO18_uc001iir.2_Missense_Mutation_p.A545V|FBXO18_uc009xig.2_Missense_Mutation_p.A545V|FBXO18_uc001iit.2_Missense_Mutation_p.A670V	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	619					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ACAGAAGAGGCGCACCAGATG	0.552												
RBM17	84991	broad.mit.edu	37	10	6154225	6154225	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:6154225G>T	uc001ijb.2	+	8	983	c.757G>T	c.(757-759)GGT>TGT	p.G253C	RBM17_uc010qav.1_Missense_Mutation_p.G253C|RBM17_uc001ijc.2_5'Flank	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	253	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GGAGGGCCAGGGTCTGGGGAA	0.597												
TAF3	83860	broad.mit.edu	37	10	7866405	7866405	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:7866405G>A	uc010qbd.1	+	2	291	c.291G>A	c.(289-291)CCG>CCA	p.P97P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	97					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						ACCAAATTCCGTCATTTCCTG	0.423												
OPTN	10133	broad.mit.edu	37	10	13178765	13178765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:13178765C>T	uc001ilu.1	+	16	2071	c.1633C>T	c.(1633-1635)CGG>TGG	p.R545W	OPTN_uc001ilv.1_Missense_Mutation_p.R545W|OPTN_uc001ilw.1_Missense_Mutation_p.R545W|OPTN_uc001ilx.1_Missense_Mutation_p.R545W|OPTN_uc001ily.1_Missense_Mutation_p.R539W|OPTN_uc010qbr.1_Missense_Mutation_p.R488W|OPTN_uc001ilz.1_Missense_Mutation_p.R539W	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	545	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						CAGGGACTGGCGGCAACAGCG	0.458												
RPP38	10557	broad.mit.edu	37	10	15145415	15145415	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15145415C>T	uc001iny.3	+	3	815	c.102C>T	c.(100-102)AGC>AGT	p.S34S	RPP38_uc009xjm.2_Silent_p.S34S|RPP38_uc001inx.3_Silent_p.S34S	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	34					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						TCCGCTGGAGCGCTCTGGAGA	0.507												
FAM171A1	221061	broad.mit.edu	37	10	15254921	15254921	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15254921A>T	uc001iob.2	-	8	2673	c.2666T>A	c.(2665-2667)ATT>AAT	p.I889N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	889	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCTCATTTAATGTTAAACGC	0.507												
FAM171A1	221061	broad.mit.edu	37	10	15290770	15290770	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15290770C>T	uc001iob.2	-	5	629	c.622G>A	c.(622-624)GTC>ATC	p.V208I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	208	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCAAGTGGACGCTGACGGCT	0.562												
CUBN	8029	broad.mit.edu	37	10	16941150	16941150	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:16941150T>C	uc001ioo.2	-	54	8495	c.8443A>G	c.(8443-8445)ACA>GCA	p.T2815A	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.T171A	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2815	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATCTGATTGTACCATTATCA	0.403												
VIM	7431	broad.mit.edu	37	10	17277192	17277192	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:17277192C>T	uc001iou.2	+	7	1446	c.1033C>T	c.(1033-1035)CGT>TGT	p.R345C	VIM_uc001iov.1_Missense_Mutation_p.R345C|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R345C|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R303C|VIM_uc001ipc.1_Missense_Mutation_p.R345C	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	345	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACGCCAGATGCGTGAAATGGA	0.478												
SLC39A12	221074	broad.mit.edu	37	10	18276520	18276520	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:18276520G>A	uc001ipo.2	+	7	1482	c.1209G>A	c.(1207-1209)CTG>CTA	p.L403L	SLC39A12_uc001ipn.2_Silent_p.L403L|SLC39A12_uc001ipp.2_Silent_p.L403L|SLC39A12_uc010qck.1_Silent_p.L269L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	403	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCTTACAGCTGTTTGTGGGCT	0.532												
PRTFDC1	56952	broad.mit.edu	37	10	25160939	25160939	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25160939C>T	uc001ise.1	-	4	422	c.393G>A	c.(391-393)ACG>ACA	p.T131T	PRTFDC1_uc010qdd.1_Silent_p.T131T|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	131					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1						TTCCAGCCAGCGTTGAAAGAT	0.468												
ENKUR	219670	broad.mit.edu	37	10	25279400	25279400	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25279400C>T	uc001isg.1	-	4	751	c.586G>A	c.(586-588)GTT>ATT	p.V196I	ENKUR_uc001ish.1_Missense_Mutation_p.V134I	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	196						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ACCTGCAAAACTGCCTCCCTT	0.403												
GPR158	57512	broad.mit.edu	37	10	25887786	25887786	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25887786A>C	uc001isj.2	+	11	3291	c.3231A>C	c.(3229-3231)CAA>CAC	p.Q1077H	GPR158_uc001isk.2_Missense_Mutation_p.Q452H	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1077	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GGGAGAGCCAAGGCCAGTCCA	0.493												
GAD2	2572	broad.mit.edu	37	10	26505753	26505753	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26505753C>T	uc001isp.2	+	1	518	c.15C>T	c.(13-15)GGC>GGT	p.G5G	GAD2_uc009xkr.2_Silent_p.G5G|GAD2_uc001isq.2_Silent_p.G5G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	5					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CATCTCCGGGCTCTGGCTTTT	0.672												
GAD2	2572	broad.mit.edu	37	10	26506836	26506836	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26506836G>A	uc001isp.2	+	3	705	c.202G>A	c.(202-204)GCC>ACC	p.A68T	GAD2_uc009xkr.2_Missense_Mutation_p.A68T|GAD2_uc001isq.2_Missense_Mutation_p.A68T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	68					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	gcgggccgccgcccggAAGGC	0.567												
GAD2	2572	broad.mit.edu	37	10	26513580	26513580	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26513580G>A	uc001isp.2	+	6	1227	c.724G>A	c.(724-726)GGT>AGT	p.G242S	GAD2_uc001isq.2_Missense_Mutation_p.G242S	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	242					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	ATTTTCTCCCGGTACATGATA	0.388												
PDSS1	23590	broad.mit.edu	37	10	27012843	27012843	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:27012843C>T	uc001isv.2	+	7	764	c.718C>T	c.(718-720)CGT>TGT	p.R240C	PDSS1_uc001isw.2_Missense_Mutation_p.R240C	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	240					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						AGATTTGGTGCGTGGTACGTT	0.378												
PTCHD3	374308	broad.mit.edu	37	10	27702478	27702478	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:27702478G>A	uc001itu.2	-	1	820	c.702C>T	c.(700-702)GGC>GGT	p.G234G		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	234					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCTGCACCGCGCCGTCCAGTT	0.627												
ZNF438	220929	broad.mit.edu	37	10	31133912	31133912	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31133912A>T	uc010qdz.1	-	8	2900	c.2465T>A	c.(2464-2466)CTT>CAT	p.L822H	ZNF438_uc001ivn.2_Missense_Mutation_p.L773H|ZNF438_uc010qdy.1_Missense_Mutation_p.L812H|ZNF438_uc001ivo.3_Missense_Mutation_p.L386H|ZNF438_uc009xlg.2_Missense_Mutation_p.L822H|ZNF438_uc001ivp.3_Missense_Mutation_p.L812H|ZNF438_uc010qea.1_Missense_Mutation_p.L822H|ZNF438_uc010qeb.1_Missense_Mutation_p.L822H	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TTCACTGGAAAGTTCGATCAC	0.532												
ZNF438	220929	broad.mit.edu	37	10	31134326	31134326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31134326G>A	uc010qdz.1	-	8	2486	c.2051C>T	c.(2050-2052)CCA>CTA	p.P684L	ZNF438_uc001ivn.2_Missense_Mutation_p.P635L|ZNF438_uc010qdy.1_Missense_Mutation_p.P674L|ZNF438_uc001ivo.3_Missense_Mutation_p.P248L|ZNF438_uc009xlg.2_Missense_Mutation_p.P684L|ZNF438_uc001ivp.3_Missense_Mutation_p.P674L|ZNF438_uc010qea.1_Missense_Mutation_p.P684L|ZNF438_uc010qeb.1_Missense_Mutation_p.P684L	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CTTGCTTCCTGGGAAGGTCCC	0.502												
ZEB1	6935	broad.mit.edu	37	10	31815877	31815877	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31815877C>T	uc001ivs.3	+	9	3123	c.3060C>T	c.(3058-3060)GGC>GGT	p.G1020G	ZEB1_uc001ivr.3_Silent_p.G802G|ZEB1_uc010qee.1_Silent_p.G802G|ZEB1_uc010qef.1_Silent_p.G802G|ZEB1_uc001ivt.3_Silent_p.G802G|ZEB1_uc001ivu.3_Silent_p.G1021G|ZEB1_uc001ivv.3_Silent_p.G1000G|ZEB1_uc010qeh.1_Silent_p.G953G|ZEB1_uc009xlp.2_Silent_p.G1004G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1020	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CCTCACAGGGCGACTCGGACG	0.423												
NRP1	8829	broad.mit.edu	37	10	33502476	33502476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:33502476C>T	uc001iwx.3	-	9	1975	c.1452G>A	c.(1450-1452)TGG>TGA	p.W484*	NRP1_uc001iwv.3_Nonsense_Mutation_p.W484*|NRP1_uc009xlz.2_Nonsense_Mutation_p.W484*|NRP1_uc001iww.3_Nonsense_Mutation_p.W303*|NRP1_uc001iwy.3_Nonsense_Mutation_p.W484*|NRP1_uc001iwz.2_Nonsense_Mutation_p.W484*|NRP1_uc001ixa.2_Nonsense_Mutation_p.W484*|NRP1_uc001ixb.1_Nonsense_Mutation_p.W484*|NRP1_uc001ixc.1_Nonsense_Mutation_p.W484*	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	484	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CTATTTGGAGCCACTCATTGA	0.537												
ZNF33A	7581	broad.mit.edu	37	10	38343438	38343438	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:38343438A>G	uc001izh.2	+	5	561	c.383A>G	c.(382-384)GAT>GGT	p.D128G	ZNF33A_uc001izg.2_Missense_Mutation_p.D129G|ZNF33A_uc010qev.1_Missense_Mutation_p.D135G|ZNF33A_uc001izi.1_Missense_Mutation_p.D129G	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	128						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						TTTAATGTGGATGTAAGTTCT	0.328												
BMS1	9790	broad.mit.edu	37	10	43315753	43315753	+	Missense_Mutation	SNP	A	A	G	rs2419109		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:43315753A>G	uc001jaj.2	+	16	3008	c.2650A>G	c.(2650-2652)ATG>GTG	p.M884V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	884					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCGACCTGGGATGTACGTCCG	0.458												
RET	5979	broad.mit.edu	37	10	43613913	43613913	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:43613913G>A	uc001jal.2	+	13	2567	c.2377G>A	c.(2377-2379)GCC>ACC	p.A793T	RET_uc001jak.1_Missense_Mutation_p.A793T|RET_uc010qez.1_Missense_Mutation_p.A539T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	793	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATTGTATGGGGCCTGCAGCCA	0.587		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
TMEM72	643236	broad.mit.edu	37	10	45430553	45430553	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:45430553T>C	uc001jbn.2	+	5	996	c.799T>C	c.(799-801)TCA>CCA	p.S267P	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.S149P	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	267						integral to membrane					0						ACTCTTCCTGTCATCTCTTAC	0.612												
FRMPD2	143162	broad.mit.edu	37	10	49457097	49457097	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:49457097T>C	uc001jgi.2	-	3	383	c.276A>G	c.(274-276)GGA>GGG	p.G92G	FRMPD2_uc001jgh.2_Silent_p.G83G|FRMPD2_uc001jgj.2_Silent_p.G92G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	92	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCTCACTCTGTCCCTGTAGCA	0.562												
ERCC6	2074	broad.mit.edu	37	10	50680490	50680490	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:50680490G>A	uc001jhs.3	-	16	3010	c.2856C>T	c.(2854-2856)GGC>GGT	p.G952G	ERCC6_uc009xod.2_Silent_p.G112G|ERCC6_uc010qgr.1_Silent_p.G322G|ERCC6_uc001jhr.3_Silent_p.G320G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	952	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCTTCTTCTGGCCTATTCTCC	0.522								Direct_reversal_of_damage|NER				
OGDHL	55753	broad.mit.edu	37	10	50959951	50959951	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:50959951T>C	uc001jie.2	-	6	813	c.671A>G	c.(670-672)AAG>AGG	p.K224R	OGDHL_uc009xog.2_Missense_Mutation_p.K251R|OGDHL_uc010qgt.1_Missense_Mutation_p.K167R|OGDHL_uc010qgu.1_Missense_Mutation_p.K15R|OGDHL_uc009xoh.2_Missense_Mutation_p.K15R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	224					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGTCTCAAACTTCTGCCGGAT	0.597												
NCOA4	8031	broad.mit.edu	37	10	51585083	51585083	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:51585083T>C	uc001jis.3	+	8	1385	c.1182T>C	c.(1180-1182)CAT>CAC	p.H394H	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.H410H|NCOA4_uc010qhd.1_Silent_p.H410H|NCOA4_uc010qhe.1_Silent_p.H294H|NCOA4_uc010qhf.1_Silent_p.H228H|NCOA4_uc001jit.2_Silent_p.H394H|NCOA4_uc009xoo.2_Silent_p.H394H	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	394					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TCCAGAACCATCAGGACCCAT	0.512			T	RET	papillary thyroid 							
ANK3	288	broad.mit.edu	37	10	61831897	61831897	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:61831897T>G	uc001jky.2	-	37	8934	c.8742A>C	c.(8740-8742)TCA>TCC	p.S2914S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2914					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTTTAATTTCTGAGAGAGAGC	0.388												
DNAJC12	56521	broad.mit.edu	37	10	69571347	69571347	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:69571347A>C	uc001jnb.2	-	3	400	c.232T>G	c.(232-234)TGG>GGG	p.W78G	DNAJC12_uc001jnc.2_Missense_Mutation_p.W78G	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	78	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						CTCCTTCGCCAGTGGTCATAG	0.493												
PPA1	5464	broad.mit.edu	37	10	71977579	71977579	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:71977579C>T	uc001jqv.1	-	4	393	c.286G>A	c.(286-288)GCC>ACC	p.A96T		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	96				AI -> TL (in Ref. 10; CAA88494).	diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						TGAGGGATGGCACCATAGTTC	0.343												
UNC5B	219699	broad.mit.edu	37	10	73047482	73047482	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73047482C>T	uc001jro.2	+	6	1306	c.861C>T	c.(859-861)GGC>GGT	p.G287G	UNC5B_uc001jrp.2_Silent_p.G287G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	287	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TCTGCGAGGGCCAGGCATTCC	0.647												
CDH23	64072	broad.mit.edu	37	10	73464675	73464675	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73464675C>T	uc001jrx.3	+	24	3118	c.2741C>T	c.(2740-2742)GCC>GTC	p.A914V	CDH23_uc001jry.2_Missense_Mutation_p.A530V|CDH23_uc001jrz.2_Missense_Mutation_p.A530V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	914	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						CAGGTGGTGGCCATCGACCTC	0.652												
CDH23	64072	broad.mit.edu	37	10	73491898	73491898	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73491898G>A	uc001jrx.3	+	31	4247	c.3870G>A	c.(3868-3870)CCG>CCA	p.P1290P	CDH23_uc001jrz.2_Silent_p.P906P|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Silent_p.P98P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1290	Cadherin 12.|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						ACCAGGCCCCGCCCTTCAACC	0.562												
PSAP	5660	broad.mit.edu	37	10	73588831	73588831	+	Missense_Mutation	SNP	G	G	A	rs148519599		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73588831G>A	uc001jsm.2	-	5	483	c.379C>T	c.(379-381)CGT>TGT	p.R127C		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	127	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TCCCCAGGACGGCTCTGGTGG	0.522												
ZMYND17	118490	broad.mit.edu	37	10	75188039	75188039	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75188039C>T	uc001jud.2	-	2	70	c.4G>A	c.(4-6)GCT>ACT	p.A2T	ZMYND17_uc001juc.2_Missense_Mutation_p.A2T|ZMYND17_uc009xrh.2_Missense_Mutation_p.A25T|ZMYND17_uc009xrg.2_5'UTR	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	2							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					GACCGTGGAGCCATGGCCTGT	0.507												
PPP3CB	5532	broad.mit.edu	37	10	75234731	75234731	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75234731T>A	uc001jue.2	-	4	604	c.469A>T	c.(469-471)AGA>TGA	p.R157*	PPP3CB_uc001juf.2_Nonsense_Mutation_p.R157*|PPP3CB_uc001jug.2_Nonsense_Mutation_p.R157*|PPP3CB_uc001jui.2_Nonsense_Mutation_p.R175*|PPP3CB_uc001juh.2_Nonsense_Mutation_p.R71*	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	157	Catalytic.									skin(1)	1	Prostate(51;0.0119)					TGGTTGCCTCTCAGAAGAAAT	0.338												
SYNPO2L	79933	broad.mit.edu	37	10	75408049	75408049	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75408049C>G	uc001jut.3	-	4	1513	c.1361G>C	c.(1360-1362)GGT>GCT	p.G454A	SYNPO2L_uc001jus.3_Missense_Mutation_p.G230A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	454	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CGGGGCTCCACCACCTGGTTG	0.657												
SEC24C	9632	broad.mit.edu	37	10	75525936	75525936	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75525936G>T	uc001juw.2	+	12	1754	c.1575G>T	c.(1573-1575)GAG>GAT	p.E525D	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Missense_Mutation_p.E383D|SEC24C_uc001jux.2_Missense_Mutation_p.E525D|SEC24C_uc010qko.1_Missense_Mutation_p.E406D|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	525					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCCTCTGTGAGGAGCTCAAGT	0.468												
MYST4	23522	broad.mit.edu	37	10	76789444	76789444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:76789444C>T	uc001jwn.1	+	18	5355	c.4862C>T	c.(4861-4863)GCT>GTT	p.A1621V	MYST4_uc001jwo.1_Missense_Mutation_p.A1329V|MYST4_uc001jwp.1_Missense_Mutation_p.A1438V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1621	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AGTGTCCCTGCTCTGGAAAAC	0.542			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78944607	78944607	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:78944607A>C	uc001jxn.2	-	4	847	c.670T>G	c.(670-672)TTC>GTC	p.F224V	KCNMA1_uc001jxj.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Missense_Mutation_p.F44V|KCNMA1_uc001jxo.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxm.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxq.2_Missense_Mutation_p.F224V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	224	Helical; Name=Segment S2; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGAAGGAAGAACACGTTGAAA	0.448												
RPS24	6229	broad.mit.edu	37	10	79795119	79795119	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:79795119G>A	uc001jzq.2	+	2	155	c.13G>A	c.(13-15)GTA>ATA	p.V5I	RPS24_uc001jzo.2_Missense_Mutation_p.V5I|RPS24_uc010qlo.1_Missense_Mutation_p.V5I|RPS24_uc001jzp.2_Missense_Mutation_p.V5I|RPS24_uc001jzs.2_Missense_Mutation_p.V5I|RPS24_uc001jzt.2_RNA	NM_001026	NP_001017	P62847	RS24_HUMAN	ribosomal protein S24 isoform c	5					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			skin(1)	1	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAACGACACCGTAACTATCCG	0.398												
ZMIZ1	57178	broad.mit.edu	37	10	81061949	81061949	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:81061949C>T	uc001kaf.2	+	18	2677	c.2105C>T	c.(2104-2106)GCA>GTA	p.A702V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A578V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	702					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCTGCCCGCAGAGCACTGT	0.627												
MMRN2	79812	broad.mit.edu	37	10	88702426	88702426	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:88702426G>A	uc001kea.2	-	6	2242	c.2115C>T	c.(2113-2115)AGC>AGT	p.S705S	MMRN2_uc010qmn.1_Silent_p.S348S|MMRN2_uc009xtb.2_Silent_p.S662S	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	705	Potential.					extracellular space				large_intestine(1)	1						TGACGTCGTTGCTCAGGCTCT	0.751												
AGAP11	119385	broad.mit.edu	37	10	88769344	88769344	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:88769344C>A	uc001kee.2	+	12	2539	c.1335C>A	c.(1333-1335)CCC>CCA	p.P445P	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	445	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CCCCACTACCCTGCACTGAGC	0.607												
TNKS2	80351	broad.mit.edu	37	10	93579297	93579297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:93579297G>A	uc001khp.2	+	5	913	c.616G>A	c.(616-618)GCA>ACA	p.A206T		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	206					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CAACTGCCACGCAAGTGATGG	0.348												
TBC1D12	23232	broad.mit.edu	37	10	96291116	96291116	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:96291116G>A	uc001kjr.2	+	12	2343	c.2158G>A	c.(2158-2160)GCA>ACA	p.A720T		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	720						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)				TATTCATATAGCACAGTTTCT	0.368												
ENTPD1	953	broad.mit.edu	37	10	97605234	97605234	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:97605234T>A	uc001klh.3	+	6	1018	c.694T>A	c.(694-696)TCC>ACC	p.S232T	ENTPD1_uc001kle.1_Missense_Mutation_p.S239T|ENTPD1_uc001kli.3_Missense_Mutation_p.S239T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.S244T|ENTPD1_uc010qok.1_Missense_Mutation_p.S124T|ENTPD1_uc010qol.1_Missense_Mutation_p.S124T|ENTPD1_uc010qom.1_Missense_Mutation_p.S232T|ENTPD1_uc010qon.1_Missense_Mutation_p.S94T|ENTPD1_uc009xva.2_Missense_Mutation_p.S94T|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	232	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GACTATCGAGTCCCCAGATAA	0.468												
COX15	1355	broad.mit.edu	37	10	101489441	101489441	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:101489441A>G	uc001kqb.3	-	2	758	c.141T>C	c.(139-141)TCT>TCC	p.S47S	COX15_uc001kqc.3_Silent_p.S47S|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	47					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AAGCTACTTCAGAGATGGTGC	0.532												
SCD	6319	broad.mit.edu	37	10	102107859	102107859	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102107859G>A	uc001kqy.2	+	2	556	c.66G>A	c.(64-66)GCG>GCA	p.A22A		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	22	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CCATTACAGCGCCTCCCTCCA	0.532												
SEC31B	25956	broad.mit.edu	37	10	102255279	102255279	+	Missense_Mutation	SNP	G	G	A	rs148539684	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102255279G>A	uc001krc.1	-	19	2437	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	SEC31B_uc010qpo.1_Missense_Mutation_p.R778W|SEC31B_uc001krd.1_Missense_Mutation_p.R316W|SEC31B_uc001krf.1_Missense_Mutation_p.R316W|SEC31B_uc001kre.1_Missense_Mutation_p.R316W|SEC31B_uc001krg.1_Missense_Mutation_p.R348W	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	779					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAAAAAGCCGATCTCTTAGC	0.483												
TLX1	3195	broad.mit.edu	37	10	102893954	102893954	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102893954G>A	uc001ksw.2	+	2	829	c.591G>A	c.(589-591)ACG>ACA	p.T197T		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAACCGGACGCCCCCCAAGA	0.627			T	TRB@|TRD@	T-ALL							
TRIM8	81603	broad.mit.edu	37	10	104415048	104415048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:104415048C>T	uc001kvz.2	+	3	1001	c.878C>T	c.(877-879)ACG>ATG	p.T293M		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	293						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTTGATAAGACGGAGGATGTC	0.597												
MXI1	4601	broad.mit.edu	37	10	111967674	111967674	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:111967674G>A	uc001kyy.2	+	1	312	c.108G>A	c.(106-108)CCG>CCA	p.P36P	MXI1_uc001kyz.2_5'Flank	NM_130439	NP_569157	P50539	MXI1_HUMAN	MAX interactor 1 isoform b	48					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		cccagcccccggccctgcccG	0.448												
ABLIM1	3983	broad.mit.edu	37	10	116444084	116444084	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:116444084A>C	uc010qsh.1	-	1	331	c.29T>G	c.(28-30)CTC>CGC	p.L10R	ABLIM1_uc010qsi.1_Missense_Mutation_p.L10R|ABLIM1_uc009xyp.2_Missense_Mutation_p.L4R|ABLIM1_uc001lbz.1_Intron	NM_001003408	NP_001003408	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform c	Error:Variant_position_missing_in_O14639_after_alignment					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGGGTCCGTGAGCTCAGTCAT	0.463												
PNLIPRP2	5408	broad.mit.edu	37	10	118385521	118385521	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:118385521G>A	uc001lcq.2	+	6	295	c.272G>A	c.(271-273)CGC>CAC	p.R91H	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	90					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		CGCAAGACACGCTTCATCATC	0.502												
HSPA12A	259217	broad.mit.edu	37	10	118434729	118434729	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:118434729G>A	uc001lct.2	-	12	1696	c.1591C>T	c.(1591-1593)CGC>TGC	p.R531C	HSPA12A_uc001lcu.2_Missense_Mutation_p.R448C	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	531							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GGCGACCGGCGCACCTTGATG	0.652												
C10orf120	399814	broad.mit.edu	37	10	124457714	124457714	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124457714C>A	uc001lgn.2	-	3	575	c.543G>T	c.(541-543)CAG>CAT	p.Q181H		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	181										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				AGGGTAAAGGCTGATGATTTC	0.502												
IKZF5	64376	broad.mit.edu	37	10	124754218	124754218	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124754218T>C	uc001lha.2	-	5	637	c.338A>G	c.(337-339)CAT>CGT	p.H113R	IKZF5_uc001lgz.2_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	113	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGGACAAAGATGACATCGATG	0.383												
ACADSB	36	broad.mit.edu	37	10	124800748	124800748	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124800748G>T	uc001lhb.2	+	5	651	c.534G>T	c.(532-534)GAG>GAT	p.E178D	ACADSB_uc010qub.1_Missense_Mutation_p.E76D	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	178	FAD.				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCCTTTCAGAGGCTGGAGCAG	0.378												
ZRANB1	54764	broad.mit.edu	37	10	126671767	126671767	+	Silent	SNP	G	G	A	rs75293113	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:126671767G>A	uc001lic.2	+	7	1943	c.1572G>A	c.(1570-1572)ACG>ACA	p.T524T	ZRANB1_uc010qug.1_Silent_p.T550T	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	524	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAGCAGACGCACATTTTTG	0.363												
DPYSL4	10570	broad.mit.edu	37	10	134010562	134010562	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:134010562C>T	uc009ybb.2	+	6	732	c.578C>T	c.(577-579)GCC>GTC	p.A193V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	193					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GACCTGGGGGCCTTGGCCCAG	0.692												
KNDC1	85442	broad.mit.edu	37	10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:135024207G>A	uc001llz.1	+	21	3888	c.3887G>A	c.(3886-3888)CGC>CAC	p.R1296H		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1296	N-terminal Ras-GEF.				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)		CTCCTCGACCGCATCAACAGC	0.622												
KNDC1	85442	broad.mit.edu	37	10	135032588	135032588	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:135032588C>T	uc001llz.1	+	28	4855	c.4854C>T	c.(4852-4854)GCC>GCT	p.A1618A		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1618	Ras-GEF.				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)		AGCTGAAAGCCGTGGAGGTAC	0.617												
SIGIRR	59307	broad.mit.edu	37	11	408790	408790	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:408790G>T	uc001lpd.2	-	3	441	c.111C>A	c.(109-111)GTC>GTA	p.V37V	SIGIRR_uc001lpf.2_Silent_p.V37V|SIGIRR_uc001lpe.1_Silent_p.V37V|SIGIRR_uc001lpg.2_Silent_p.V37V	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	37	Ig-like C2-type.|Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGCCCAGAGACTACCCAAG	0.607												
LRRC56	115399	broad.mit.edu	37	11	554076	554076	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:554076C>T	uc010qvz.1	+	14	1934	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	477										skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGGGGGCGTCGGCTCCG	0.697												
AP2A2	161	broad.mit.edu	37	11	970244	970244	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:970244A>G	uc001lss.2	+	3	393	c.212A>G	c.(211-213)GAC>GGC	p.D71G	AP2A2_uc001lst.1_Missense_Mutation_p.D71G|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_5'Flank	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	71	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGGTCATGACATTGACTTT	0.468												
MUC5B	727897	broad.mit.edu	37	11	1158129	1158129	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1158129C>A	uc009ycr.1	+	10	1235	c.1109C>A	c.(1108-1110)GCC>GAC	p.A370D		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTGTGTGGCCGGCTGCTTC	0.657												
MUC5B	727897	broad.mit.edu	37	11	1162089	1162089	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1162089G>A	uc009ycr.1	+	15	1806	c.1680G>A	c.(1678-1680)GCG>GCA	p.A560A		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGCTGGCGCCCAAGCTCC	0.637												
MUC5B	727897	broad.mit.edu	37	11	1261607	1261607	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1261607T>C	uc009ycr.1	+	46	6175	c.6049_splice	c.e46+2	p.S2017_splice	MUC5B_uc001ltb.2_Splice_Site_p.S1327_splice	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGACAAGTAAGCCCTGCC	0.617												
IGF2	3481	broad.mit.edu	37	11	2156684	2156684	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:2156684C>T	uc009yde.2	-	2	173	c.70G>A	c.(70-72)GCT>ACT	p.A24T	IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Missense_Mutation_p.A24T|IGF2_uc009ydf.2_Missense_Mutation_p.A80T|IGF2_uc001lvh.2_Missense_Mutation_p.A24T|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	24					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGGTAAGCAGCAATGCAGCAC	0.617												
PGAP2	27315	broad.mit.edu	37	11	3846314	3846314	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:3846314C>T	uc001lys.2	+	6	899	c.773C>T	c.(772-774)GCG>GTG	p.A258V	PGAP2_uc001lyl.2_Missense_Mutation_p.A215V|PGAP2_uc010qxw.1_Missense_Mutation_p.A315V|PGAP2_uc010qxx.1_Silent_p.G238G|PGAP2_uc001lyp.3_Silent_p.G124G|PGAP2_uc010qxy.1_Missense_Mutation_p.A250V|PGAP2_uc010qxz.1_Missense_Mutation_p.A254V|PGAP2_uc001lyn.3_Silent_p.G150G|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.G221G|PGAP2_uc010qyb.1_Silent_p.G200G|PGAP2_uc001lyt.2_Missense_Mutation_p.A41V	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	258	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TTCTTCTCGGCGCTGGCTGTC	0.547											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHOG	391	broad.mit.edu	37	11	3849243	3849243	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:3849243C>T	uc001lyu.2	-	2	284	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	42					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTGCGCTCTGCGCGCTGTAAT	0.587												
TRIM21	6737	broad.mit.edu	37	11	4409697	4409697	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:4409697C>T	uc001lyy.1	-	4	681	c.568G>A	c.(568-570)GTT>ATT	p.V190I		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	190	Potential.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCTTCTTCAACCAGGAAGTTT	0.498												
TRIM21	6737	broad.mit.edu	37	11	4411368	4411368	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:4411368C>T	uc001lyy.1	-	2	385	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	91					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACTGCACACCGTTCCCCCTG	0.547												
OR52A4	390053	broad.mit.edu	37	11	5142185	5142185	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5142185T>C	uc001lzz.1	-	1	624	c.624A>G	c.(622-624)GCA>GCG	p.A208A		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAACAATAAATGCTCCAAGGA	0.413												
OR52N1	79473	broad.mit.edu	37	11	5810019	5810019	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5810019T>A	uc010qzo.1	-	1	28	c.28A>T	c.(28-30)ACT>TCT	p.T10S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAAGCTGGAGTTAGGCTGGTG	0.408												
CCKBR	887	broad.mit.edu	37	11	6291368	6291368	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:6291368C>T	uc001mcp.2	+	3	647	c.454C>T	c.(454-456)CGG>TGG	p.R152W	CCKBR_uc001mcq.2_Missense_Mutation_p.R80W|CCKBR_uc001mcr.2_Missense_Mutation_p.R152W|CCKBR_uc001mcs.2_Missense_Mutation_p.R152W	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	152	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCACTGGAGCGGTACAGCGC	0.597												
HPX	3263	broad.mit.edu	37	11	6461447	6461447	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:6461447C>T	uc001mdg.2	-	4	345	c.284G>A	c.(283-285)AGC>AAC	p.S95N	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.S95N	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	95	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATCCACAGGGCTGGGGAAATT	0.522												
SYT9	143425	broad.mit.edu	37	11	7334896	7334896	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7334896A>G	uc001mfe.2	+	3	1005	c.768A>G	c.(766-768)TCA>TCG	p.S256S	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	256	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGGGACTTCAGATCCTTATG	0.393												
OR5P2	120065	broad.mit.edu	37	11	7817741	7817741	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7817741G>A	uc001mfp.1	-	1	749	c.749C>T	c.(748-750)ACC>ATC	p.T250I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGGTAATGGTCCCATAGAA	0.502												
NLRP10	338322	broad.mit.edu	37	11	7982833	7982833	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7982833A>G	uc001mfv.1	-	2	343	c.326T>C	c.(325-327)CTA>CCA	p.L109P		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	109							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTCCTCTAGGCAGCGCAC	0.517												
ST5	6764	broad.mit.edu	37	11	8751553	8751553	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:8751553C>T	uc001mgt.2	-	3	1470	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.P428P|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.P428P	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	428	Pro-rich.|Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGTGACTGGCGGGGCTGGGG	0.592												
SBF2	81846	broad.mit.edu	37	11	10051398	10051398	+	Missense_Mutation	SNP	C	C	T	rs142469360		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10051398C>T	uc001mib.2	-	5	565	c.427G>A	c.(427-429)GTG>ATG	p.V143M	SBF2_uc001mif.3_Translation_Start_Site|SBF2_uc001mij.2_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	143	DENN.				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)		TCCACATACACGGTATAGATC	0.403												
AMPD3	272	broad.mit.edu	37	11	10517270	10517270	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10517270C>T	uc001mio.1	+	9	1755	c.1420C>T	c.(1420-1422)CCC>TCC	p.P474S	AMPD3_uc010rbz.1_Missense_Mutation_p.P315S|AMPD3_uc001min.1_Missense_Mutation_p.P483S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P481S|AMPD3_uc009yfy.2_Missense_Mutation_p.P474S	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	474					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCCAGGTGCCCCGGATTTA	0.587												
USP47	55031	broad.mit.edu	37	11	11957978	11957978	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:11957978C>T	uc001mjq.1	+	18	2821	c.2058C>T	c.(2056-2058)GGC>GGT	p.G686G	USP47_uc001mjr.2_Silent_p.G598G|USP47_uc001mjs.2_Silent_p.G666G|USP47_uc001mjt.1_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	686					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TACTAGGTGGCGTCAAGTCAA	0.398												
USP47	55031	broad.mit.edu	37	11	11969622	11969622	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:11969622C>T	uc001mjs.2	+	21	3985	c.3222C>T	c.(3220-3222)AGC>AGT	p.S1074S	USP47_uc001mjr.2_Silent_p.S1006S|USP47_uc009ygi.2_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1094					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AGTTTGAGAGCGTCCGGCTGA	0.383												
MICAL2	9645	broad.mit.edu	37	11	12234849	12234849	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:12234849G>A	uc001mjz.2	+	7	1027	c.739G>A	c.(739-741)GCC>ACC	p.A247T	MICAL2_uc010rch.1_Missense_Mutation_p.A247T|MICAL2_uc001mka.2_Missense_Mutation_p.A247T|MICAL2_uc010rci.1_Missense_Mutation_p.A247T|MICAL2_uc001mkb.2_Missense_Mutation_p.A247T|MICAL2_uc001mkc.2_Missense_Mutation_p.A247T|MICAL2_uc001mkd.2_Missense_Mutation_p.A76T|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	247						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TGCCATCACCGCCAACTTCAT	0.433												
MICAL2	9645	broad.mit.edu	37	11	12281414	12281414	+	Missense_Mutation	SNP	G	G	A	rs148517207		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:12281414G>A	uc001mjz.2	+	26	3592	c.3304G>A	c.(3304-3306)GCC>ACC	p.A1102T	MICAL2_uc010rch.1_Missense_Mutation_p.A912T|MICAL2_uc001mka.2_Missense_Mutation_p.A1102T|MICAL2_uc010rci.1_Missense_Mutation_p.A1081T|MICAL2_uc001mkb.2_Missense_Mutation_p.A876T|MICAL2_uc001mkc.2_Missense_Mutation_p.A855T|MICAL2_uc001mkd.2_Missense_Mutation_p.A684T|MICAL2_uc010rcj.1_Missense_Mutation_p.A314T|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	1102						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CGCAGTGGCCGCCATTGGCAC	0.597												
LDHA	3939	broad.mit.edu	37	11	18422497	18422497	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:18422497A>C	uc001mok.3	+	4	630	c.358A>C	c.(358-360)ATC>CTC	p.I120L	LDHA_uc010rdc.1_Intron|LDHA_uc009yhn.2_Missense_Mutation_p.I120L|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.I120L|LDHA_uc010rdd.1_Missense_Mutation_p.I149L	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	120					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	CTTTAAATTCATCATTCCTAA	0.418												
MUC15	143662	broad.mit.edu	37	11	26586878	26586878	+	Silent	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:26586878A>C	uc001mqx.2	-	2	794	c.528T>G	c.(526-528)ACT>ACG	p.T176T	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.T203T|MUC15_uc001mqy.2_Silent_p.T203T	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	176	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGATGGAGAAGTTGGTTCTG	0.433												
ANO3	63982	broad.mit.edu	37	11	26664848	26664848	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:26664848C>T	uc001mqt.3	+	23	2540	c.2395C>T	c.(2395-2397)CGG>TGG	p.R799W	ANO3_uc010rdr.1_Missense_Mutation_p.R783W|ANO3_uc010rds.1_Missense_Mutation_p.R638W|ANO3_uc010rdt.1_Missense_Mutation_p.R653W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	799	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACTCAATGGCGGAGGCCTTT	0.388												
PAX6	5080	broad.mit.edu	37	11	31822286	31822286	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	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			
DEPDC7	91614	broad.mit.edu	37	11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:33050184C>T	uc001mub.2	+	4	720	c.628C>T	c.(628-630)CGT>TGT	p.R210C	DEPDC7_uc001muc.2_Missense_Mutation_p.R201C	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						AACAATTGGGCGTCTACTACA	0.383												
ELF5	2001	broad.mit.edu	37	11	34527192	34527192	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:34527192G>T	uc001mvo.1	-	2	365	c.135C>A	c.(133-135)GCC>GCA	p.A45A	ELF5_uc001mvp.1_Silent_p.A35A|ELF5_uc009ykd.1_Silent_p.A35A|ELF5_uc001mvq.1_Silent_p.A35A	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	45	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GATGCTCAAAGGCAGGGTAGT	0.552												
CD44	960	broad.mit.edu	37	11	35198160	35198160	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:35198160G>A	uc001mvu.2	+	2	540	c.106G>A	c.(106-108)GTG>ATG	p.V36M	CD44_uc001mvv.2_Missense_Mutation_p.V36M|CD44_uc001mvw.2_Missense_Mutation_p.V36M|CD44_uc001mvx.2_Missense_Mutation_p.V36M|CD44_uc001mvy.2_Missense_Mutation_p.V36M|CD44_uc001mwc.3_Missense_Mutation_p.V36M|CD44_uc010rer.1_Missense_Mutation_p.V36M|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	36	Extracellular (Potential).|Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGTATTCCACGTGGAGAAAAA	0.443												
PAMR1	25891	broad.mit.edu	37	11	35515662	35515662	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:35515662A>G	uc001mwg.2	-	2	275	c.232T>C	c.(232-234)TCC>CCC	p.S78P	PAMR1_uc001mwf.2_Missense_Mutation_p.S78P|PAMR1_uc010rew.1_Missense_Mutation_p.S78P|PAMR1_uc010rex.1_Missense_Mutation_p.S38P	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	78	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ATCAGGCAGGAGTCACACTCA	0.507												
ACCSL	390110	broad.mit.edu	37	11	44081393	44081393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:44081393C>T	uc001mxw.1	+	14	1686	c.1630C>T	c.(1630-1632)CGT>TGT	p.R544C	ACCSL_uc009ykr.2_Missense_Mutation_p.R363C	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	544							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TCTAGCTATGCGTCGGTTCTG	0.517												
CHST1	8534	broad.mit.edu	37	11	45671251	45671251	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45671251C>T	uc001mys.1	-	4	1894	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	408	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGAGAAGGGGCGGAAGTCCCG	0.632												
SLC35C1	55343	broad.mit.edu	37	11	45832610	45832610	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45832610C>T	uc001nbp.2	+	2	1531	c.819C>T	c.(817-819)GGC>GGT	p.G273G	SLC35C1_uc001nbo.2_Silent_p.G260G|SLC35C1_uc010rgm.1_Silent_p.G260G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	273	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		TGACGCTGGGCGGCCTGTTTG	0.637												
PEX16	9409	broad.mit.edu	37	11	45936019	45936019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45936019G>A	uc001nbu.2	-	7	854	c.542C>T	c.(541-543)ACG>ATG	p.T181M	PEX16_uc001nbt.2_Missense_Mutation_p.T181M	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	181	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		CAGGGACGGCGCTAGAACACA	0.692												
PEX16	9409	broad.mit.edu	37	11	45937794	45937794	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45937794C>T	uc001nbu.2	-	3	521	c.209G>A	c.(208-210)CGG>CAG	p.R70Q	PEX16_uc001nbt.2_Missense_Mutation_p.R70Q	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	70	Cytoplasmic (Potential).|Required for peroxisomal location.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		CAACTTTTTCCGAAGCTCCTT	0.542												
DGKZ	8525	broad.mit.edu	37	11	46389218	46389218	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:46389218G>T	uc001ncn.1	+	4	979	c.854G>T	c.(853-855)GGG>GTG	p.G285V	DGKZ_uc001nch.1_Missense_Mutation_p.G113V|DGKZ_uc010rgq.1_Missense_Mutation_p.G62V|DGKZ_uc001ncj.1_Missense_Mutation_p.G62V|DGKZ_uc010rgr.1_Missense_Mutation_p.G61V|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.G96V|DGKZ_uc001ncm.2_Missense_Mutation_p.G96V|DGKZ_uc009yky.1_Missense_Mutation_p.G96V|DGKZ_uc010rgs.1_Missense_Mutation_p.G96V|DGKZ_uc001nci.1_Missense_Mutation_p.G62V	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	285					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCGACATATGGGGAGCACATC	0.647												
F2	2147	broad.mit.edu	37	11	46748106	46748106	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:46748106C>T	uc001ndf.3	+	8	976	c.933C>T	c.(931-933)ATC>ATT	p.I311I	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	311					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACAGGGCCATCGAAGGGCGTA	0.632												
PACSIN3	29763	broad.mit.edu	37	11	47202114	47202114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47202114C>T	uc001ndw.2	-	5	677	c.339G>A	c.(337-339)TGG>TGA	p.W113*	PACSIN3_uc001ndx.2_Nonsense_Mutation_p.W113*|PACSIN3_uc001ndy.2_Nonsense_Mutation_p.W113*|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	113					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						CCCCCCGCTGCCAGGCGCGCA	0.716												
FNBP4	23360	broad.mit.edu	37	11	47776173	47776173	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47776173A>G	uc009ylv.2	-	3	510	c.357T>C	c.(355-357)GAT>GAC	p.D119D	FNBP4_uc001ngj.2_Silent_p.D26D|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	119										ovary(1)	1						CATCATTGTCATCGTCATCAC	0.393												
PTPRJ	5795	broad.mit.edu	37	11	48146561	48146561	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48146561G>A	uc001ngp.3	+	6	1271	c.916G>A	c.(916-918)GCC>ACC	p.A306T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A306T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	306	Extracellular (Potential).|Fibronectin type-III 3.				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						GAGCCCCACCGCCCCTGTGCA	0.587												
PTPRJ	5795	broad.mit.edu	37	11	48152048	48152048	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48152048C>T	uc001ngp.3	+	8	1750	c.1395C>T	c.(1393-1395)GTC>GTT	p.V465V	PTPRJ_uc001ngo.3_Silent_p.V465V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	465	Extracellular (Potential).|Fibronectin type-III 5.				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						TGACAGTGGTCAGCACGACGG	0.468												
OR4X1	390113	broad.mit.edu	37	11	48285736	48285736	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48285736T>G	uc010rht.1	+	1	324	c.324T>G	c.(322-324)ACT>ACG	p.T108T		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						TTGGTGGCACTGAGGCCTTTC	0.507												
OR4C46	119749	broad.mit.edu	37	11	51515685	51515685	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:51515685A>C	uc010ric.1	+	1	404	c.404A>C	c.(403-405)AAC>ACC	p.N135T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACTATCATGAACCAGTGTGTG	0.483												
OR5J2	282775	broad.mit.edu	37	11	55944805	55944805	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:55944805T>G	uc010rjb.1	+	1	712	c.712T>G	c.(712-714)TTC>GTC	p.F238V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					ACAGCAAGCCTTCTCCACCTG	0.463												
OR5T3	390154	broad.mit.edu	37	11	56020329	56020329	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56020329T>G	uc010rjd.1	+	1	654	c.654T>G	c.(652-654)TCT>TCG	p.S218S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398												
OR5M3	219482	broad.mit.edu	37	11	56237670	56237670	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56237670A>C	uc010rjk.1	-	1	304	c.304T>G	c.(304-306)TTC>GTC	p.F102V		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGAGCAATGAAGAAGAAACAC	0.368												
OR5M3	219482	broad.mit.edu	37	11	56237805	56237805	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56237805T>C	uc010rjk.1	-	1	169	c.169A>G	c.(169-171)ATG>GTG	p.M57V		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AAAAAGTACATGGGGTTGTTA	0.393												
OR5AP2	338675	broad.mit.edu	37	11	56409116	56409116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56409116C>T	uc001njb.1	-	1	800	c.800G>A	c.(799-801)CGC>CAC	p.R267H		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AGATGTAGGGCGCAAGTACAT	0.433												
OR9Q1	219956	broad.mit.edu	37	11	57947126	57947126	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:57947126C>T	uc001nmj.2	+	3	526	c.210C>T	c.(208-210)GAC>GAT	p.D70D		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				CTTTCATGGACGTCTGCTACT	0.498												
MS4A15	219995	broad.mit.edu	37	11	60543165	60543165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:60543165G>A	uc009ynf.1	+	7	920	c.700G>A	c.(700-702)GCA>ACA	p.A234T	MS4A15_uc001npx.2_Missense_Mutation_p.A141T|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.A193T	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	234						integral to membrane	receptor activity			lung(1)	1						TGACAATGTGGCATATGCCCA	0.602											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM109	79073	broad.mit.edu	37	11	60688430	60688430	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:60688430G>A	uc001nqg.2	+	3	688	c.310G>A	c.(310-312)GCA>ACA	p.A104T	TMEM109_uc001nqh.2_Missense_Mutation_p.A104T	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	104	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						TGGGATCGCCGCACAGCTGCT	0.537												
VWCE	220001	broad.mit.edu	37	11	61048268	61048268	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61048268G>A	uc001nra.2	-	8	1506	c.1227C>T	c.(1225-1227)TGC>TGT	p.C409C	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	409	VWFC 1.					extracellular region	calcium ion binding			ovary(1)	1						TACCCACCTCGCACCAGCACT	0.627												
DAGLA	747	broad.mit.edu	37	11	61491028	61491028	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61491028C>T	uc001nsa.2	+	5	643	c.532C>T	c.(532-534)CGG>TGG	p.R178W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	178	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GCGTAACCTGCGGACCTACAA	0.607												
FTH1	2495	broad.mit.edu	37	11	61732559	61732559	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61732559C>A	uc001nsu.2	-	3	522	c.287G>T	c.(286-288)AGC>ATC	p.S96I		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	96	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	ATTCAGCCCGCTCTCCCAGTC	0.448												
AHNAK	79026	broad.mit.edu	37	11	62287566	62287566	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:62287566C>T	uc001ntl.2	-	5	14623	c.14323G>A	c.(14323-14325)GAC>AAC	p.D4775N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4775					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTGCCAGTCTGGGCCATGA	0.537												
EML3	256364	broad.mit.edu	37	11	62378607	62378607	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:62378607C>T	uc001ntu.1	-	3	712	c.404G>A	c.(403-405)GGC>GAC	p.G135D	EML3_uc001ntr.1_Missense_Mutation_p.G107D|EML3_uc001nts.1_Missense_Mutation_p.G107D|EML3_uc001ntt.1_Missense_Mutation_p.A32T|EML3_uc010rly.1_Missense_Mutation_p.G135D|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	135						cytoplasm|microtubule	protein binding			ovary(1)	1						CCCCGGGGGGCCAGGGGAGCC	0.682												
SLC22A10	387775	broad.mit.edu	37	11	63064880	63064880	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:63064880C>A	uc009yor.2	+	3	820	c.612C>A	c.(610-612)TTC>TTA	p.F204L	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	204	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						TACTACGCTTCTTGGCAGGTT	0.413												
FLRT1	23769	broad.mit.edu	37	11	63883698	63883698	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:63883698G>T	uc001nyi.1	+	2	300	c.-41G>T	c.(-43--39)CAGGC>CATGC		MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein						cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						CAGGTATTCAGGCTCCAGGCC	0.507												
SLC22A11	55867	broad.mit.edu	37	11	64329769	64329769	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64329769C>T	uc001oai.2	+	4	1057	c.683C>T	c.(682-684)GCG>GTG	p.A228V	SLC22A11_uc001oah.1_Silent_p.G193G|SLC22A11_uc001oaj.2_Missense_Mutation_p.A228V|SLC22A11_uc009ypq.2_Missense_Mutation_p.A228V|SLC22A11_uc001oak.1_Missense_Mutation_p.A57V	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	228	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	AGCAGGAGGGCGGTCACCATG	0.682												
NRXN2	9379	broad.mit.edu	37	11	64453195	64453195	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64453195C>T	uc001oar.2	-	7	1514	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T	NRXN2_uc001oas.2_Missense_Mutation_p.A335T|NRXN2_uc001oaq.2_Missense_Mutation_p.A33T	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TCCACAAGGGCCTCGAAGGCA	0.602												
CDC42BPG	55561	broad.mit.edu	37	11	64597443	64597443	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64597443C>T	uc001obs.3	-	30	3467	c.3467G>A	c.(3466-3468)CGT>CAT	p.R1156H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1156	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						GGCAAAGAGACGCACGCTGGG	0.662												
PCNXL3	399909	broad.mit.edu	37	11	65391432	65391432	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:65391432C>T	uc001oey.2	+	13	2544	c.2544C>T	c.(2542-2544)CAC>CAT	p.H848H	PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	848						integral to membrane					0						CCCCCATGCACGTGAGTACCC	0.582												
NPAS4	266743	broad.mit.edu	37	11	66190222	66190222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66190222C>T	uc001ohx.1	+	4	684	c.508C>T	c.(508-510)CGA>TGA	p.R170*	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	170					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CGTGCTTATTCGAGGCCGATT	0.577												
RBM14	10432	broad.mit.edu	37	11	66393136	66393136	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66393136G>A	uc001oit.2	+	2	1928	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	597					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						AAAGGCTGTCGCCATGTCGAA	0.662												
PITPNM1	9600	broad.mit.edu	37	11	67266215	67266215	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67266215C>T	uc001olx.2	-	9	1525	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.A446T|PITPNM1_uc001olz.2_Missense_Mutation_p.A446T	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	446					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						TTGGAGTTGGCGTCTCCAGGG	0.667												
PITPNM1	9600	broad.mit.edu	37	11	67266285	67266285	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67266285C>A	uc001olx.2	-	9	1455	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E422D|PITPNM1_uc001olz.2_Missense_Mutation_p.E422D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	422					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTGCGCATGCCTCAGCCCCCA	0.657												
ALDH3B2	222	broad.mit.edu	37	11	67434057	67434057	+	Missense_Mutation	SNP	C	C	T	rs1140670		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67434057C>T	uc001omr.2	-	4	578	c.139G>A	c.(139-141)GCC>ACC	p.A47T	ALDH3B2_uc001oms.2_Missense_Mutation_p.A47T|ALDH3B2_uc009ysa.1_Missense_Mutation_p.A47T	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	47				ALA -> TLP (in Ref. 1; AAA85441 and 2; no nucleotide entry).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	GCGGCGAGGGCGCCCACCAGG	0.637												
LRP5	4041	broad.mit.edu	37	11	68125290	68125290	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68125290C>T	uc001ont.2	+	3	736	c.661C>T	c.(661-663)CGT>TGT	p.R221C	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	221	Beta-propeller 1.|LDL-receptor class B 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CTTCATCCACCGTGCCAACCT	0.577												
SAPS3	55291	broad.mit.edu	37	11	68369411	68369411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68369411C>T	uc001onw.2	+	21	2540	c.2273C>T	c.(2272-2274)GCG>GTG	p.A758V	SAPS3_uc001onv.2_Missense_Mutation_p.A758V|SAPS3_uc001ony.3_Missense_Mutation_p.A729V|SAPS3_uc001onx.2_Missense_Mutation_p.A752V|SAPS3_uc009ysh.2_Missense_Mutation_p.A678V|SAPS3_uc001onu.2_Missense_Mutation_p.A678V|SAPS3_uc010rqc.1_Missense_Mutation_p.A526V|SAPS3_uc010rqd.1_Missense_Mutation_p.A441V|SAPS3_uc001onz.2_Missense_Mutation_p.A86V|SAPS3_uc001ooa.2_Missense_Mutation_p.A208V	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	758					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			ACTCCCAGTGCGGCTGCCCTG	0.517												
MTL5	9633	broad.mit.edu	37	11	68475967	68475967	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68475967G>A	uc001ooc.2	-	10	1476	c.1336C>T	c.(1336-1338)CGG>TGG	p.R446W		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	446					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GAGGAAGGCCGCCTGTCAGAA	0.507												
IGHMBP2	3508	broad.mit.edu	37	11	68673617	68673617	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68673617G>A	uc001ook.1	+	2	269	c.167G>A	c.(166-168)CGC>CAC	p.R56H	IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	56					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCAGCCAGCGCACTGGGCTG	0.587												
MRGPRD	116512	broad.mit.edu	37	11	68747523	68747523	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68747523C>T	uc010rqf.1	-	1	933	c.933G>A	c.(931-933)ACG>ACA	p.T311T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCACGGTGGGCGTCTCCCCAC	0.687												
NUMA1	4926	broad.mit.edu	37	11	71724998	71724998	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71724998G>A	uc001orl.1	-	15	3723	c.3551C>T	c.(3550-3552)GCC>GTC	p.A1184V	NUMA1_uc009ysw.1_Missense_Mutation_p.A747V|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A1184V|NUMA1_uc001orn.2_Missense_Mutation_p.A747V|NUMA1_uc009ysx.1_Missense_Mutation_p.A1184V|NUMA1_uc001oro.1_Missense_Mutation_p.A1184V	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1184	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CGAGGCTAAGGCACTCTGACT	0.657			T	RARA	APL							
FOLR3	2352	broad.mit.edu	37	11	71847078	71847078	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71847078C>T	uc001ory.1	+	2	130	c.80C>T	c.(79-81)GCG>GTG	p.A27V	FOLR3_uc001orx.1_Missense_Mutation_p.A27V			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	25					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	CCCAGGAGTGCGCGGGCCAGG	0.632												
INPPL1	3636	broad.mit.edu	37	11	71942042	71942042	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71942042G>A	uc001osf.2	+	12	1453	c.1306G>A	c.(1306-1308)GTA>ATA	p.V436I	INPPL1_uc001osg.2_Missense_Mutation_p.V194I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	436					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						TCCAGGAAGTGTACCACCTCC	0.607												
RELT	84957	broad.mit.edu	37	11	73105738	73105738	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:73105738G>T	uc001otv.2	+	9	1170	c.1005G>T	c.(1003-1005)AAG>AAT	p.K335N	RELT_uc001otw.2_Missense_Mutation_p.K335N|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	335	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						CCGGGGCCAAGGCAGGGCGTC	0.652												
PLEKHB1	58473	broad.mit.edu	37	11	73372524	73372524	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:73372524G>A	uc001oua.2	+	8	1040	c.609G>A	c.(607-609)ACG>ACA	p.T203T	PLEKHB1_uc001oub.2_Silent_p.T168T|PLEKHB1_uc001ouc.2_Silent_p.T184T|PLEKHB1_uc001oud.2_Silent_p.T149T|PLEKHB1_uc009ytq.2_Silent_p.T149T	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B	203					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			ovary(1)|lung(1)	2						CTGGCGTGACGCACGTGATAG	0.657											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XRRA1	143570	broad.mit.edu	37	11	74617353	74617353	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:74617353T>A	uc009yub.2	-	10	1242	c.910A>T	c.(910-912)ATG>TTG	p.M304L	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_5'UTR|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.M304L|XRRA1_uc001ovp.3_Missense_Mutation_p.M71L|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.M71L	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	304					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TCCTCAAGCATCCTTGGCTTG	0.498												
C11orf30	56946	broad.mit.edu	37	11	76261110	76261110	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:76261110G>A	uc001oxl.2	+	21	4032	c.3889G>A	c.(3889-3891)GCA>ACA	p.A1297T	C11orf30_uc001oxm.2_Missense_Mutation_p.A1199T|C11orf30_uc010rsb.1_Missense_Mutation_p.A1312T|C11orf30_uc010rsc.1_Missense_Mutation_p.A1298T|C11orf30_uc001oxn.2_Missense_Mutation_p.A1298T|C11orf30_uc010rsd.1_Missense_Mutation_p.A1206T|C11orf30_uc010rse.1_Missense_Mutation_p.A544T|C11orf30_uc001oxp.2_Missense_Mutation_p.A230T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1297					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						TGAGGAGACAGCAATGGAGCA	0.512												
SYTL2	54843	broad.mit.edu	37	11	85407243	85407243	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:85407243C>T	uc010rth.1	-	17	2918	c.2642G>A	c.(2641-2643)CGT>CAT	p.R881H	SYTL2_uc010rtg.1_Missense_Mutation_p.R882H|SYTL2_uc010rti.1_Missense_Mutation_p.R857H|SYTL2_uc010rtj.1_Missense_Mutation_p.R849H|SYTL2_uc001pav.2_Missense_Mutation_p.R323H|SYTL2_uc010rte.1_Missense_Mutation_p.R283H|SYTL2_uc001pax.2_Missense_Mutation_p.R323H|SYTL2_uc001paz.2_Missense_Mutation_p.R202H|SYTL2_uc001pba.2_Missense_Mutation_p.R266H|SYTL2_uc001pay.2_Missense_Mutation_p.R312H|SYTL2_uc001paw.2_Missense_Mutation_p.R283H|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R1179H|SYTL2_uc001pbb.2_Missense_Mutation_p.R1219H|SYTL2_uc001pbc.2_Missense_Mutation_p.R1203H|SYTL2_uc010rtf.1_Missense_Mutation_p.R699H	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	881					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAGCCAATACGAAGACCTCC	0.408												
CCDC83	220047	broad.mit.edu	37	11	85626507	85626507	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:85626507A>C	uc001pbh.1	+	9	1352	c.840A>C	c.(838-840)GAA>GAC	p.E280D	CCDC83_uc001pbg.1_Missense_Mutation_p.E311D|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.E181D	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	280										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGCCACCTGAAGAAATGTCTT	0.284												
FAT3	120114	broad.mit.edu	37	11	92258014	92258014	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:92258014G>A	uc001pdj.3	+	2	3524	c.3507G>A	c.(3505-3507)CAG>CAA	p.Q1169Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1169	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGTCATTCAGATCCAGGCTG	0.398										TCGA Ovarian(4;0.039)		
HEPHL1	341208	broad.mit.edu	37	11	93800812	93800812	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:93800812C>T	uc001pep.2	+	5	1116	c.959C>T	c.(958-960)ACT>ATT	p.T320I	uc001pen.1_RNA	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	320	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGGCATCGGACTGATGTCGTC	0.478												
CNTN5	53942	broad.mit.edu	37	11	100179126	100179126	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:100179126A>C	uc001pga.2	+	21	2995	c.2656A>C	c.(2656-2658)AGT>CGT	p.S886R	CNTN5_uc001pfz.2_Missense_Mutation_p.S886R|CNTN5_uc001pgb.2_Missense_Mutation_p.S812R|CNTN5_uc010ruk.1_Missense_Mutation_p.S157R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	886	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGGCGACAAGTGTGTCTGT	0.398												
PGR	5241	broad.mit.edu	37	11	100998925	100998925	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:100998925G>A	uc001pgh.2	-	1	1620	c.877C>T	c.(877-879)CGC>TGC	p.R293C	PGR_uc001pgi.2_Missense_Mutation_p.R293C|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	293	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGCGGGGAGCGCCCGGGCGCC	0.677												
TRPC6	7225	broad.mit.edu	37	11	101374812	101374812	+	Silent	SNP	C	C	A	rs144891994		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:101374812C>A	uc001pgk.3	-	2	1313	c.888G>T	c.(886-888)ACG>ACT	p.T296T	TRPC6_uc009ywy.2_Silent_p.T296T|TRPC6_uc009ywz.1_Silent_p.T296T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	296	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)		GTTCTAAAGCCGTCATGACTG	0.458												
CASP5	838	broad.mit.edu	37	11	104879548	104879548	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:104879548G>A	uc010rva.1	-	2	199	c.167C>T	c.(166-168)TCG>TTG	p.S56L	CASP5_uc010ruz.1_Missense_Mutation_p.S69L|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	56	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TACACTGGTCGACTTTTGATC	0.383												
GRIA4	2893	broad.mit.edu	37	11	105483047	105483047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:105483047C>T	uc001pix.2	+	3	579	c.133C>T	c.(133-135)CGA>TGA	p.R45*	GRIA4_uc001piu.1_Nonsense_Mutation_p.R45*|GRIA4_uc001piw.2_Nonsense_Mutation_p.R45*|GRIA4_uc001piv.2_Nonsense_Mutation_p.R45*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.R45*|GRIA4_uc001pit.2_Nonsense_Mutation_p.R45*	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	45	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	CACTGCTTTTCGATTAGCAAT	0.413												
GUCY1A2	2977	broad.mit.edu	37	11	106888515	106888515	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:106888515C>T	uc001pjg.1	-	1	657	c.267G>A	c.(265-267)TCG>TCA	p.S89S	GUCY1A2_uc010rvo.1_Silent_p.S89S|GUCY1A2_uc009yxn.1_Silent_p.S89S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	89					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCTCGCCCAGCGAGTCCAGGT	0.517												
ZC3H12C	85463	broad.mit.edu	37	11	110035459	110035459	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:110035459C>A	uc009yxw.2	+	6	1700	c.1649C>A	c.(1648-1650)CCT>CAT	p.P550H	ZC3H12C_uc010rwc.1_Missense_Mutation_p.P551H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.P551H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.P519H	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	550							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CATTTCCCACCTCAGGATCAA	0.433												
APOA4	337	broad.mit.edu	37	11	116691900	116691900	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:116691900G>T	uc001pps.1	-	3	978	c.874C>A	c.(874-876)CTG>ATG	p.L292M		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCCACCCAGCTCTGCCAGT	0.657												
DSCAML1	57453	broad.mit.edu	37	11	117403175	117403175	+	Missense_Mutation	SNP	C	C	T	rs142110596		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:117403175C>T	uc001prh.1	-	4	756	c.754G>A	c.(754-756)GCC>ACC	p.A252T	DSCAML1_uc001pri.1_Missense_Mutation_p.A56T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	192	Extracellular (Potential).|Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGAGAGGGCGTCCTCCTTC	0.557												
UBE4A	9354	broad.mit.edu	37	11	118245827	118245827	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118245827C>A	uc001psw.2	+	9	1462	c.1333C>A	c.(1333-1335)CTA>ATA	p.L445I	UBE4A_uc001psv.2_Missense_Mutation_p.L452I	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	445					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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;3.28e-05)		TCTCCTGAAGCTATGCCAGCC	0.458												
BCL9L	283149	broad.mit.edu	37	11	118772051	118772051	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118772051G>A	uc001pug.2	-	6	3366	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	BCL9L_uc009zal.2_Missense_Mutation_p.R796W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	801	Met-rich.				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)		CCAGGGCCCCGCATCTTCTGC	0.517												
MFRP	83552	broad.mit.edu	37	11	119216564	119216564	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:119216564T>G	uc001pwj.2	-	4	506	c.346A>C	c.(346-348)ACC>CCC	p.T116P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.T116P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	37	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		atggtgggggtggtggtggtc	0.552												
GRIK4	2900	broad.mit.edu	37	11	120744855	120744855	+	Silent	SNP	C	C	T	rs111523175		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120744855C>T	uc001pxn.2	+	10	1274	c.987C>T	c.(985-987)GGC>GGT	p.G329G	GRIK4_uc009zav.1_Silent_p.G329G|GRIK4_uc009zaw.1_Silent_p.G329G|GRIK4_uc009zax.1_Silent_p.G329G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	329	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AAGAGATCGGCGTGAAGCCCT	0.577												
TECTA	7007	broad.mit.edu	37	11	120980049	120980049	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120980049G>A	uc010rzo.1	+	3	328	c.328G>A	c.(328-330)GAG>AAG	p.E110K		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	110	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATTCGAGGCGAGATCTATTA	0.512												
TECTA	7007	broad.mit.edu	37	11	120996158	120996158	+	Missense_Mutation	SNP	G	G	T	rs150823097		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120996158G>T	uc010rzo.1	+	7	1351	c.1351G>T	c.(1351-1353)GGC>TGC	p.G451C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	451	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCCGTCCCAGGCTCCTATAT	0.502												
TECTA	7007	broad.mit.edu	37	11	121000442	121000442	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121000442C>T	uc010rzo.1	+	9	2463	c.2463C>T	c.(2461-2463)GGC>GGT	p.G821G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	821	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTCCAAGGGCGTGGTGACTG	0.478												
TECTA	7007	broad.mit.edu	37	11	121000757	121000757	+	Silent	SNP	C	C	T	rs149008453		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121000757C>T	uc010rzo.1	+	9	2778	c.2778C>T	c.(2776-2778)TGC>TGT	p.C926C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	926	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTGGAGTGCCATGGGGTGG	0.582												
TECTA	7007	broad.mit.edu	37	11	121016728	121016728	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121016728C>T	uc010rzo.1	+	11	4008	c.4008C>T	c.(4006-4008)GGC>GGT	p.G1336G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1336					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCGATGGGGGCGCGGTGCAGA	0.562												
SORL1	6653	broad.mit.edu	37	11	121358756	121358756	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121358756G>A	uc001pxx.2	+	4	624	c.544G>A	c.(544-546)GCT>ACT	p.A182T		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	182	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTTGCAGACGCTTATGCCCA	0.522												
C11orf63	79864	broad.mit.edu	37	11	122756890	122756890	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:122756890C>T	uc001pym.2	+	2	630	c.333C>T	c.(331-333)GGC>GGT	p.G111G	C11orf63_uc001pyl.1_Silent_p.G111G	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	111										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGGACCAGGGCGCCAATAACA	0.463												
ROBO3	64221	broad.mit.edu	37	11	124747437	124747437	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:124747437G>A	uc001qbc.2	+	20	3061	c.2869G>A	c.(2869-2871)GCC>ACC	p.A957T	ROBO3_uc010saq.1_Missense_Mutation_p.A6T|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.A6T|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	957	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCTTGGCCCCGCCCCCTACTC	0.657												
IGSF9B	22997	broad.mit.edu	37	11	133792519	133792519	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:133792519G>T	uc001qgx.3	-	16	2457	c.2226C>A	c.(2224-2226)ACC>ACA	p.T742T	IGSF9B_uc001qgy.1_Silent_p.T584T	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	742	Helical; (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCAGCCAGGGTGCTGAACA	0.612												
IQSEC3	440073	broad.mit.edu	37	12	248367	248367	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:248367C>T	uc001qhw.1	+	1	935	c.929C>T	c.(928-930)GCG>GTG	p.A310V	IQSEC3_uc001qhu.1_Missense_Mutation_p.A310V|IQSEC3_uc001qht.1_Missense_Mutation_p.A395V|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	613					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCTCGGAGGCGTCGGCCTCC	0.657												
SLC6A13	6540	broad.mit.edu	37	12	336795	336795	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:336795C>T	uc001qic.1	-	8	924	c.871G>A	c.(871-873)GCC>ACC	p.A291T	SLC6A13_uc009zdj.1_Missense_Mutation_p.A291T|SLC6A13_uc010sdl.1_Missense_Mutation_p.A199T|SLC6A13_uc010sdm.1_Missense_Mutation_p.A172T	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	291	Helical; Name=6; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACAGATGGCGAAGGAGAAG	0.567												
KDM5A	5927	broad.mit.edu	37	12	427487	427487	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:427487C>T	uc001qif.1	-	19	3045	c.2682G>A	c.(2680-2682)CTG>CTA	p.L894L	KDM5A_uc001qie.1_Silent_p.L894L|KDM5A_uc010sdn.1_Silent_p.L853L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	894					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GCTCTTGCTTCAGTCGTGGTA	0.463			T 	NUP98	AML							
CACNA1C	775	broad.mit.edu	37	12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:2566843G>A	uc009zdu.1	+	5	1041	c.728G>A	c.(727-729)CGC>CAC	p.R243H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R243H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R243H|CACNA1C_uc001qke.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R243H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R243H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R243H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R243H|CACNA1C_uc001qko.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R243H|CACNA1C_uc001qku.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R243H|CACNA1C_uc001qks.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R243H|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	243	I.|Helical; Name=S4 of repeat I; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGTGCTGCGCCCCCTGCGG	0.562												
CACNA1C	775	broad.mit.edu	37	12	2800254	2800254	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:2800254C>T	uc009zdu.1	+	50	6868	c.6555C>T	c.(6553-6555)GAC>GAT	p.D2185D	CACNA1C_uc009zdv.1_Silent_p.D2099D|CACNA1C_uc001qkb.2_Silent_p.D2102D|CACNA1C_uc001qkc.2_Silent_p.D2121D|CACNA1C_uc001qke.2_Silent_p.D2091D|CACNA1C_uc001qkf.2_Silent_p.D2110D|CACNA1C_uc001qjz.2_Silent_p.D2102D|CACNA1C_uc001qkd.2_Silent_p.D2121D|CACNA1C_uc001qkg.2_Silent_p.D2108D|CACNA1C_uc009zdw.1_Silent_p.D2143D|CACNA1C_uc001qkh.2_Silent_p.D2110D|CACNA1C_uc001qkl.2_Silent_p.D2150D|CACNA1C_uc001qkn.2_Silent_p.D2102D|CACNA1C_uc001qko.2_Silent_p.D2122D|CACNA1C_uc001qkp.2_Silent_p.D2102D|CACNA1C_uc001qkr.2_Silent_p.D2119D|CACNA1C_uc001qku.2_Silent_p.D2137D|CACNA1C_uc001qkq.2_Silent_p.D2130D|CACNA1C_uc001qks.2_Silent_p.D2102D|CACNA1C_uc001qkt.2_Silent_p.D2121D|CACNA1C_uc001qki.1_Silent_p.D1909D|CACNA1C_uc001qkj.1_Silent_p.D1873D|CACNA1C_uc001qkk.1_Silent_p.D1838D|CACNA1C_uc001qkm.1_Silent_p.D1898D|CACNA1C_uc010sea.1_Silent_p.D793D|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Silent_p.D420D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2185	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGCAGGGACGCGGGGCAGG	0.682												
KCNA5	3741	broad.mit.edu	37	12	5154774	5154774	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:5154774G>A	uc001qni.2	+	1	1690	c.1461G>A	c.(1459-1461)AGG>AGA	p.R487R		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	487						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGGACATGAGGCCCATCACTG	0.607												
TAPBPL	55080	broad.mit.edu	37	12	6561438	6561438	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6561438C>T	uc001qog.3	+	1	262	c.24C>T	c.(22-24)TGC>TGT	p.C8C	LOC678655_uc001qob.2_5'Flank|LOC678655_uc001qoc.2_5'Flank|LOC678655_uc009zel.1_5'Flank|LOC678655_uc009zem.1_5'Flank|LOC678655_uc001qof.2_5'Flank|TAPBPL_uc001qoh.3_5'UTR|TAPBPL_uc001qoi.1_RNA	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	8					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						AGGGCTGGTGCCTGCTGCTCT	0.647												
USP5	8078	broad.mit.edu	37	12	6975193	6975193	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6975193G>A	uc001qri.3	+	20	2588	c.2529G>A	c.(2527-2529)CCG>CCA	p.P843P	USP5_uc001qrh.3_Silent_p.P820P|TPI1_uc001qrk.2_5'Flank|TPI1_uc010sfo.1_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	843					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CCGAGAAGCCGCCCAAGGACC	0.537												
CLSTN3	9746	broad.mit.edu	37	12	7310099	7310099	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:7310099G>A	uc001qsr.2	+	17	2820	c.2542G>A	c.(2542-2544)GCA>ACA	p.A848T	CLSTN3_uc001qss.2_Missense_Mutation_p.A860T|CLSTN3_uc001qst.2_Missense_Mutation_p.A256T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	848	Helical; (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						ACCCAGCGCCGCAACCCTCAT	0.652												
C3AR1	719	broad.mit.edu	37	12	8211428	8211428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8211428C>A	uc001qtv.1	-	2	1446	c.1354G>T	c.(1354-1356)GGA>TGA	p.G452*		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	452	Cytoplasmic (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		TCCAGAATTCCCTGAATGGAC	0.443												
C3AR1	719	broad.mit.edu	37	12	8211804	8211804	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8211804G>A	uc001qtv.1	-	2	1070	c.978C>T	c.(976-978)GAC>GAT	p.D326D		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	326	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		GCACTTGATCGTCATCTGTGA	0.458												
FAM90A1	55138	broad.mit.edu	37	12	8375292	8375292	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8375292G>T	uc001qui.2	-	7	1080	c.521C>A	c.(520-522)TCT>TAT	p.S174Y	FAM90A1_uc001quh.2_Missense_Mutation_p.S174Y	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	174							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572												
A2ML1	144568	broad.mit.edu	37	12	9004899	9004899	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:9004899A>C	uc001quz.3	+	20	2655	c.2557A>C	c.(2557-2559)ACC>CCC	p.T853P	A2ML1_uc001qva.1_Missense_Mutation_p.T433P|A2ML1_uc010sgm.1_Missense_Mutation_p.T353P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	697						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGACGCAAAAACCCACCACTG	0.517												
CLEC1A	51267	broad.mit.edu	37	12	10233962	10233962	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10233962T>C	uc001qxb.2	-	3	349	c.265A>G	c.(265-267)ATG>GTG	p.M89V	CLEC1A_uc009zhf.2_Missense_Mutation_p.M1V|CLEC1A_uc001qxc.2_Missense_Mutation_p.M1V|CLEC1A_uc001qxd.2_Missense_Mutation_p.M46V|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	89	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						CTTTCTTCCATTTGAGAAATG	0.398												
KLRC1	3821	broad.mit.edu	37	12	10603633	10603633	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10603633C>T	uc001qyl.2	-	2	287	c.123G>A	c.(121-123)GCG>GCA	p.A41A	KLRC1_uc009zhm.1_Silent_p.A41A|KLRC1_uc001qym.2_Silent_p.A41A|KLRC1_uc001qyn.2_Silent_p.A41A|KLRC1_uc001qyo.2_Silent_p.A41A	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	41	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						GGTTTAATTCCGCATAGGTTA	0.383												
CSDA	8531	broad.mit.edu	37	12	10856665	10856665	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10856665C>T	uc001qyt.2	-	7	1106	c.863G>A	c.(862-864)CGC>CAC	p.R288H	CSDA_uc001qyu.2_Missense_Mutation_p.R219H	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	288					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GTACCTTGGGCGGTAAGTTGG	0.502												
TAS2R14	50840	broad.mit.edu	37	12	11091555	11091555	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:11091555C>T	uc010shi.1	-	1	252	c.252G>A	c.(250-252)ATG>ATA	p.M84I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	84	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						TATTAGTAAGCATTCTGAACA	0.378												
GRIN2B	2904	broad.mit.edu	37	12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:13717545G>A	uc001rbt.2	-	13	2806	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	876	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCTCGATCGCCACCCCATG	0.542												
GRIN2B	2904	broad.mit.edu	37	12	13906258	13906258	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:13906258G>T	uc001rbt.2	-	3	1182	c.1003C>A	c.(1003-1005)CTA>ATA	p.L335I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	335	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCTATTTAGCATATTGGAC	0.488												
GRIN2B	2904	broad.mit.edu	37	12	14018818	14018818	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:14018818C>T	uc001rbt.2	-	2	504	c.325G>A	c.(325-327)GCC>ACC	p.A109T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	109	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGATCTGGGCGATGGCTTCC	0.542												
EPS8	2059	broad.mit.edu	37	12	15819381	15819381	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:15819381C>T	uc009zif.2	-	7	686	c.592G>A	c.(592-594)GCC>ACC	p.A198T	EPS8_uc001rdb.2_Missense_Mutation_p.A198T|EPS8_uc009zig.2_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	198					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TACCTCAGGGCGTCGGGCCGC	0.393												
LMO3	55885	broad.mit.edu	37	12	16753748	16753748	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:16753748C>T	uc001rdk.1	-	2	487	c.47G>A	c.(46-48)TGC>TAC	p.C16Y	LMO3_uc001rdj.1_Missense_Mutation_p.C27Y|LMO3_uc010shy.1_Missense_Mutation_p.C34Y|LMO3_uc001rdl.1_Missense_Mutation_p.C16Y|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Missense_Mutation_p.C16Y|LMO3_uc001rdm.1_Missense_Mutation_p.C16Y|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Missense_Mutation_p.C16Y|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	16	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				CTTTCGGTTGCAGCCAGCACA	0.493												
SLCO1C1	53919	broad.mit.edu	37	12	20890154	20890154	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:20890154T>C	uc001rej.3	+	12	1851	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	SLCO1C1_uc010sii.1_Missense_Mutation_p.V499A|SLCO1C1_uc010sij.1_Missense_Mutation_p.V450A|SLCO1C1_uc009zip.2_Missense_Mutation_p.V333A|SLCO1C1_uc001rei.2_Missense_Mutation_p.V499A|SLCO1C1_uc010sik.1_Missense_Mutation_p.V381A	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	499	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					ATCACATATGTATCAGCTTGT	0.393												
KLHDC5	57542	broad.mit.edu	37	12	27950952	27950952	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:27950952C>T	uc001rij.2	+	3	1448	c.1371C>T	c.(1369-1371)GAC>GAT	p.D457D	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	457	Kelch 6.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					TGAGCAGAGACGTCACCCTGT	0.498												
PTHLH	5744	broad.mit.edu	37	12	28116524	28116524	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:28116524C>T	uc001rik.2	-	3	584	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	PTHLH_uc001ril.2_Missense_Mutation_p.R94Q|PTHLH_uc001rim.2_Missense_Mutation_p.R94Q|PTHLH_uc001rin.2_Missense_Mutation_p.R94Q	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	94					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					AGACCCAAATCGGACGGGGTG	0.507												
ERGIC2	51290	broad.mit.edu	37	12	29502999	29502999	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:29502999G>A	uc001riv.2	-	9	708	c.575C>T	c.(574-576)GCA>GTA	p.A192V	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	192	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ATGTGGAATTGCCCTGAAAGG	0.308												
FGD4	121512	broad.mit.edu	37	12	32772677	32772677	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:32772677G>T	uc001rkz.2	+	11	1861	c.1384G>T	c.(1384-1386)GGC>TGC	p.G462C	FGD4_uc001rlc.2_Missense_Mutation_p.G547C|FGD4_uc001rky.2_Missense_Mutation_p.G214C|FGD4_uc001rla.2_Missense_Mutation_p.G118C|FGD4_uc010ske.1_Missense_Mutation_p.G574C|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	462	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAGCTTGGTAGGCTCTAAATT	0.398												
PKP2	5318	broad.mit.edu	37	12	32945632	32945632	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:32945632G>A	uc001rlj.3	-	13	2638	c.2523C>T	c.(2521-2523)TCC>TCT	p.S841S	PKP2_uc001rlk.3_Silent_p.S797S|PKP2_uc010skj.1_Silent_p.S794S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	841	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473												
SYT10	341359	broad.mit.edu	37	12	33532872	33532872	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:33532872T>C	uc001rll.1	-	6	1692	c.1395A>G	c.(1393-1395)GGA>GGG	p.G465G	SYT10_uc009zju.1_Silent_p.G275G	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	465	C2 2.|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)					TTCTGCACACTCCTATGACCT	0.438												
SLC2A13	114134	broad.mit.edu	37	12	40422177	40422177	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40422177C>T	uc010skm.1	-	3	902	c.851G>A	c.(850-852)GGT>GAT	p.G284D	SLC2A13_uc001rmf.2_Missense_Mutation_p.G284D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	284	Cytoplasmic (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				GGTCTGGTTACCACGCATCTG	0.388										HNSCC(50;0.14)		
LRRK2	120892	broad.mit.edu	37	12	40722217	40722217	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40722217T>C	uc001rmg.3	+	39	5833	c.5712T>C	c.(5710-5712)GCT>GCC	p.A1904A	LRRK2_uc009zjw.2_Silent_p.A742A|LRRK2_uc001rmi.2_Silent_p.A737A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1904	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGAAGTGGCTGTGAAGATTT	0.323												
MLL2	8085	broad.mit.edu	37	12	49431843	49431843	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49431843C>T	uc001rta.3	-	34	9296	c.9296G>A	c.(9295-9297)CGC>CAC	p.R3099H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3099					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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGGGGAGGGCGCTCCTCAGG	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49432426	49432426	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49432426G>A	uc001rta.3	-	34	8713	c.8713C>T	c.(8713-8715)CGT>TGT	p.R2905C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2905	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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGTAAAAACGGGGTCTCTGA	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
LMBR1L	55716	broad.mit.edu	37	12	49491834	49491834	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49491834T>C	uc001rth.3	-	16	1637	c.1295A>G	c.(1294-1296)AAT>AGT	p.N432S	LMBR1L_uc001rtg.3_Missense_Mutation_p.N427S|LMBR1L_uc001rti.3_Missense_Mutation_p.N412S	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	432	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						AATGTAGAAATTGCCCAGCCA	0.572											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TROAP	10024	broad.mit.edu	37	12	49724418	49724418	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49724418C>A	uc001rtx.3	+	13	1957	c.1790C>A	c.(1789-1791)CCT>CAT	p.P597H	TROAP_uc009zlh.2_Missense_Mutation_p.P597H|TROAP_uc001rty.2_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	597	Cys-rich.|4 X 33 AA approximate tandem repeats.|3.				cell adhesion	cytoplasm				ovary(1)	1						AGGATTGAGCCTGAGATACCG	0.627												
DNAJC22	79962	broad.mit.edu	37	12	49742746	49742746	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49742746G>A	uc001rua.2	+	2	492	c.91G>A	c.(91-93)GCC>ACC	p.A31T	DNAJC22_uc001rub.2_Missense_Mutation_p.A31T	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	31	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						GGACAGCCACGCCCTGCTCTG	0.667												
ACVRL1	94	broad.mit.edu	37	12	52309876	52309876	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52309876A>G	uc001rzj.2	+	8	1388	c.1105A>G	c.(1105-1107)AGA>GGA	p.R369G	ACVRL1_uc001rzk.2_Missense_Mutation_p.R369G|ACVRL1_uc010snm.1_Missense_Mutation_p.R195G	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	369	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACAACCCGAGAGTGGGCAC	0.612									Hereditary_Hemorrhagic_Telangiectasia			
KRT6C	286887	broad.mit.edu	37	12	52864299	52864299	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52864299A>G	uc001sal.3	-	6	1241	c.1193T>C	c.(1192-1194)GTC>GCC	p.V398A		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	398	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTGCTTCTTGACATGGTCGAT	0.483												
KRT6A	3853	broad.mit.edu	37	12	52884403	52884403	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52884403C>T	uc001sam.2	-	5	1236	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	343	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGCAATCTCCTCATATTGG	0.577												
KRT3	3850	broad.mit.edu	37	12	53186123	53186123	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:53186123C>T	uc001say.2	-	5	1154	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	363	Rod.|Linker 12.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GTCCAGGGAGCGATTATTGTC	0.522												
ESPL1	9700	broad.mit.edu	37	12	53682349	53682349	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:53682349A>T	uc001sck.2	+	20	4665	c.4574A>T	c.(4573-4575)GAG>GTG	p.E1525V	ESPL1_uc001scj.2_Missense_Mutation_p.E1200V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1525					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCGGGCCCTGAGGCAGCTTCT	0.577											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HOXC12	3228	broad.mit.edu	37	12	54350255	54350255	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54350255A>G	uc010soq.1	+	2	754	c.754A>G	c.(754-756)AAT>GAT	p.N252D		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	252	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AGACCGCTTGAATCTTAGTGA	0.507												
ZNF385A	25946	broad.mit.edu	37	12	54765373	54765373	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54765373G>A	uc001sfw.1	-	4	671	c.488C>T	c.(487-489)CCG>CTG	p.P163L	ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						CAAGGAAGCCGGGGCTGGAGT	0.622												
NCKAP1L	3071	broad.mit.edu	37	12	54925968	54925968	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54925968C>T	uc001sgc.3	+	26	2875	c.2796C>T	c.(2794-2796)CAC>CAT	p.H932H	NCKAP1L_uc010sox.1_Silent_p.H474H|NCKAP1L_uc010soy.1_Silent_p.H882H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	932					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TCTCCTCCCACTGCCCATTTC	0.403												
NCKAP1L	3071	broad.mit.edu	37	12	54936433	54936433	+	Silent	SNP	C	C	A	rs137902294		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54936433C>A	uc001sgc.3	+	31	3427	c.3348C>A	c.(3346-3348)GCC>GCA	p.A1116A	NCKAP1L_uc010sox.1_Silent_p.A658A|NCKAP1L_uc010soy.1_Silent_p.A1066A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1116					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TTCGAAATGCCTATCGGGAGG	0.537												
OR6C1	390321	broad.mit.edu	37	12	55714399	55714399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:55714399G>T	uc010spi.1	+	1	16	c.16G>T	c.(16-18)GAA>TAA	p.E6*		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						AAACCATACAGAAATAACAGA	0.368												
ERBB3	2065	broad.mit.edu	37	12	56495025	56495025	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56495025G>A	uc001sjh.2	+	27	3575	c.3382G>A	c.(3382-3384)GGA>AGA	p.G1128R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.G485R|ERBB3_uc010sqc.1_Missense_Mutation_p.G1069R|ERBB3_uc009zok.2_Missense_Mutation_p.G393R|ERBB3_uc001sjk.2_Missense_Mutation_p.G369R|ERBB3_uc001sjl.2_Missense_Mutation_p.G248R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1128	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACGGCCACGCGGAGATAGCGC	0.587												
ANKRD52	283373	broad.mit.edu	37	12	56647935	56647935	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56647935C>T	uc001skm.3	-	8	912	c.822G>A	c.(820-822)ACG>ACA	p.T274T	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	274	ANK 9.						protein binding			ovary(2)	2						CATGCAGTGGCGTGAAGCCCT	0.557												
MIP	4284	broad.mit.edu	37	12	56847486	56847486	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56847486C>T	uc001slh.2	-	2	446	c.414G>A	c.(412-414)ACG>ACA	p.T138T		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	138	Helical; (By similarity).		T -> R (in ADC; progressive polymorphic and lamellar cataract; loss of activity).		response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CGAACTGGAGCGTCAGGAAGA	0.617												
GLS2	27165	broad.mit.edu	37	12	56868661	56868661	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56868661T>C	uc001slj.2	-	11	1295	c.1016A>G	c.(1015-1017)GAC>GGC	p.D339G	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.D74G|GLS2_uc009zot.2_5'UTR	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	339					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCCATCATGTCCACCCCCTT	0.547												
B4GALNT1	2583	broad.mit.edu	37	12	58021960	58021960	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:58021960G>A	uc001spg.1	-	9	1520	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	B4GALNT1_uc010sru.1_Missense_Mutation_p.A308V	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	363	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGCGTCCGCGCCGTGAAGAC	0.647												
XRCC6BP1	91419	broad.mit.edu	37	12	58335595	58335595	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:58335595C>T	uc001sqp.2	+	1	151	c.111C>T	c.(109-111)CCC>CCT	p.P37P		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	37					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1						AGGGGAATCCCCAGCAAGGGT	0.542												
HELB	92797	broad.mit.edu	37	12	66696387	66696387	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:66696387G>A	uc001sti.2	+	1	32	c.4G>A	c.(4-6)GCC>ACC	p.A2T	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	2					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAGAAGCATGGCCAGGTCGAG	0.552												
MDM2	4193	broad.mit.edu	37	12	69222698	69222698	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:69222698C>T	uc001sui.2	+	8	958	c.671C>T	c.(670-672)ACG>ATG	p.T224M	MDM2_uc009zri.2_Missense_Mutation_p.T179M|MDM2_uc009zqx.2_Missense_Mutation_p.T169M|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.T213M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.T218M|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	218	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTACAGGGACGCCATCGAAT	0.408			A		sarcoma|glioma|colorectal|other							
KCNC2	3747	broad.mit.edu	37	12	75444468	75444468	+	Silent	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:75444468A>C	uc001sxg.1	-	3	1861	c.1317T>G	c.(1315-1317)GGT>GGG	p.G439G	KCNC2_uc009zry.2_Silent_p.G439G|KCNC2_uc001sxe.2_Silent_p.G439G|KCNC2_uc001sxf.2_Silent_p.G439G|KCNC2_uc010stw.1_Silent_p.G439G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	439	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TATCCCCATAACCCAGGGTAG	0.537												
E2F7	144455	broad.mit.edu	37	12	77436971	77436971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:77436971G>A	uc001sym.3	-	7	1233	c.997C>T	c.(997-999)CGA>TGA	p.R333*		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	333	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TAGAGGCGTCGTACCTTTGCT	0.443												
LRRIQ1	84125	broad.mit.edu	37	12	85531634	85531634	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:85531634T>A	uc001tac.2	+	19	4327	c.4216T>A	c.(4216-4218)TGG>AGG	p.W1406R		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1406	IQ 3.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTAGGCAGTTTGGAAGGGCTT	0.323												
LRRIQ1	84125	broad.mit.edu	37	12	85554491	85554491	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:85554491A>C	uc001tac.2	+	24	4932	c.4821A>C	c.(4819-4821)GAA>GAC	p.E1607D		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1607										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GTTACTTTGAAGGTATGGCTT	0.264												
C12orf50	160419	broad.mit.edu	37	12	88379656	88379656	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:88379656T>A	uc001tam.1	-	11	1265	c.1097A>T	c.(1096-1098)AAC>ATC	p.N366I	C12orf50_uc001tan.2_Missense_Mutation_p.N381I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	366										skin(2)|ovary(1)	3						GGGTTCCCTGTTAGCATGGAC	0.498												
TMTC3	160418	broad.mit.edu	37	12	88554465	88554465	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:88554465C>T	uc001tau.2	+	6	854	c.634C>T	c.(634-636)CCA>TCA	p.P212S	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	212	Helical; (Potential).					integral to membrane	binding			skin(1)	1						GTATACTTTGCCATTACTATG	0.338												
ATP2B1	490	broad.mit.edu	37	12	89998030	89998030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:89998030G>A	uc001tbh.2	-	15	2717	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R846*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R516*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	846	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TAGACATTTCGTCCCCACATA	0.393												
EPYC	1833	broad.mit.edu	37	12	91358060	91358060	+	Missense_Mutation	SNP	A	A	G	rs1135867		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:91358060A>G	uc001tbk.2	-	7	935	c.842T>C	c.(841-843)GTT>GCT	p.V281A		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	281				V -> G (in Ref. 1; AAC50945).	female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						CAAATTTTTAACATTGCAGAA	0.323												
ACTR6	64431	broad.mit.edu	37	12	100613858	100613858	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:100613858G>A	uc001thb.1	+	10	1051	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	ACTR6_uc001thc.1_Missense_Mutation_p.R224Q|ACTR6_uc001thd.1_Missense_Mutation_p.R312Q|ACTR6_uc009ztu.1_Missense_Mutation_p.R137Q|ACTR6_uc001the.1_Missense_Mutation_p.R250Q|ACTR6_uc001thf.1_Missense_Mutation_p.R230Q|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	332						cytoplasm|cytoskeleton				ovary(1)	1						TTTAGGGATCGGGTTTACTCA	0.373												
SLC17A8	246213	broad.mit.edu	37	12	100813745	100813745	+	Silent	SNP	C	C	T	rs141294063		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:100813745C>T	uc010svi.1	+	12	1891	c.1578C>T	c.(1576-1578)GAC>GAT	p.D526D	SLC17A8_uc009ztx.2_Silent_p.D476D	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	526	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TTGACCAGGACGAATTAGCTG	0.473												
ANO4	121601	broad.mit.edu	37	12	101430912	101430912	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:101430912C>T	uc010svm.1	+	10	1453	c.881C>T	c.(880-882)GCG>GTG	p.A294V	ANO4_uc001thw.2_Missense_Mutation_p.A259V|ANO4_uc001thx.2_Missense_Mutation_p.A294V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	294	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TATGAAGCTGCGTTTCCCCTG	0.343										HNSCC(74;0.22)		
UTP20	27340	broad.mit.edu	37	12	101723149	101723149	+	Silent	SNP	C	C	T	rs144955025		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:101723149C>T	uc001tia.1	+	27	3495	c.3339C>T	c.(3337-3339)AGC>AGT	p.S1113S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1113					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ATCTGATCAGCGCATACCTGC	0.403												
GNPTAB	79158	broad.mit.edu	37	12	102155084	102155084	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:102155084G>A	uc001tit.2	-	15	3135	c.2956C>T	c.(2956-2958)CGC>TGC	p.R986C		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	986					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TCAGAATGGCGCACTTTGTGA	0.363												
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:109577565G>A	uc001tob.2	+	2	474	c.355G>A	c.(355-357)GGG>AGG	p.G119R	ACACB_uc001toc.2_Missense_Mutation_p.G119R	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	119					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622												
ALDH2	217	broad.mit.edu	37	12	112235973	112235973	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112235973C>T	uc001tst.2	+	10	1616	c.1175C>T	c.(1174-1176)GCT>GTT	p.A392V	ALDH2_uc010syi.1_Missense_Mutation_p.A345V|ALDH2_uc009zvy.2_Missense_Mutation_p.A316V	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	392					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GGCATTGCTGCTGACCGTGGT	0.567			T	HMGA2	leiomyoma							
C12orf51	283450	broad.mit.edu	37	12	112610662	112610662	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112610662G>A	uc009zwc.2	-	60	10350	c.10332C>T	c.(10330-10332)TGC>TGT	p.C3444C		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CGATGCATGCGCACCTTGGGG	0.587												
RPL6	6128	broad.mit.edu	37	12	112843672	112843672	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112843672G>A	uc001ttu.2	-	6	928	c.699C>T	c.(697-699)TTC>TTT	p.F233F	RPL6_uc001ttv.2_Silent_p.F233F	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	233					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1						TTTCTGTGTCGAAGATCTCAC	0.418												
OAS1	4938	broad.mit.edu	37	12	113348938	113348938	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113348938C>T	uc001tud.2	+	3	658	c.552C>T	c.(550-552)GGC>GGT	p.G184G	OAS1_uc010syn.1_Silent_p.G183G|OAS1_uc010syo.1_Nonsense_Mutation_p.R168*|OAS1_uc001tub.2_Silent_p.G184G|OAS1_uc001tuc.2_Silent_p.G184G|OAS1_uc009zwf.2_Silent_p.G183G	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	184					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						AGAAAGAGGGCGAGTTCTCCA	0.527												
DDX54	79039	broad.mit.edu	37	12	113603681	113603681	+	Missense_Mutation	SNP	G	G	A	rs150376630	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113603681G>A	uc001tup.2	-	13	1599	c.1571C>T	c.(1570-1572)CCG>CTG	p.P524L	DDX54_uc001tuq.3_Missense_Mutation_p.P524L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	524					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CGAGGGCGCCGGGCGTGAGCG	0.652												
DDX54	79039	broad.mit.edu	37	12	113618785	113618785	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113618785C>T	uc001tup.2	-	2	281	c.253G>A	c.(253-255)GTG>ATG	p.V85M	DDX54_uc001tuq.3_Missense_Mutation_p.V85M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	85					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						TGGGCACGCACCATCTCCCGG	0.622												
NOS1	4842	broad.mit.edu	37	12	117672391	117672391	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:117672391C>G	uc001twm.1	-	21	3900	c.3214G>C	c.(3214-3216)GAG>CAG	p.E1072Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1072	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCGCTCCTCCAGCAGTTCC	0.592												
NOS1	4842	broad.mit.edu	37	12	117768790	117768790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:117768790C>A	uc001twm.1	-	2	771	c.85G>T	c.(85-87)GGA>TGA	p.G29*		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAGAAATCCCAGGCCCCCA	0.562												
VSIG10	54621	broad.mit.edu	37	12	118511549	118511549	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:118511549T>G	uc001tws.2	-	5	1508	c.1174A>C	c.(1174-1176)AGC>CGC	p.S392R		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	392	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0						CCTACAGGGCTGTCAGCTCGG	0.577												
HNF1A	6927	broad.mit.edu	37	12	121426831	121426831	+	Silent	SNP	G	G	A	rs149278462		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121426831G>A	uc001tzg.2	+	2	545	c.522G>A	c.(520-522)GCG>GCA	p.A174A	HNF1A_uc001tze.1_Silent_p.A174A|HNF1A_uc001tzf.2_Silent_p.A174A|HNF1A_uc010szn.1_Silent_p.A174A	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	174					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAGGTGGCGCAGCGTAAGT	0.607									Hepatic_Adenoma_Familial_Clustering_of			
P2RX7	5027	broad.mit.edu	37	12	121603953	121603953	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121603953G>A	uc001tzm.2	+	7	803	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	P2RX7_uc001tzn.2_Missense_Mutation_p.R146Q|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_5'UTR|P2RX7_uc001tzq.2_Missense_Mutation_p.R66Q	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	236						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACATCTTCCGAGAAACAGGC	0.468												
CLIP1	6249	broad.mit.edu	37	12	122845618	122845618	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:122845618C>G	uc001ucg.1	-	4	999	c.893G>C	c.(892-894)CGA>CCA	p.R298P	CLIP1_uc001uch.1_Missense_Mutation_p.R298P|CLIP1_uc001uci.1_Missense_Mutation_p.R298P|CLIP1_uc001ucj.1_5'UTR|CLIP1_uc010tae.1_Missense_Mutation_p.R298P	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	298					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGCCATCACTCGCCTCACTGC	0.582												
GPR109A	338442	broad.mit.edu	37	12	123187301	123187301	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123187301C>T	uc001ucx.1	-	1	604	c.530G>A	c.(529-531)TGC>TAC	p.C177Y	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	177	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GAAGCTGCTGCACAAATTTGC	0.547												
SBNO1	55206	broad.mit.edu	37	12	123794266	123794266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123794266C>A	uc010tap.1	-	25	3433	c.3433G>T	c.(3433-3435)GGA>TGA	p.G1145*	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Nonsense_Mutation_p.G1144*|SBNO1_uc010taq.1_Nonsense_Mutation_p.G96*|SBNO1_uc001ues.1_Nonsense_Mutation_p.G96*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1145							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTAAGATTCCCATATCATAT	0.403												
DNAH10	196385	broad.mit.edu	37	12	124265729	124265729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:124265729C>T	uc001uft.3	+	6	566	c.541C>T	c.(541-543)CCG>TCG	p.P181S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	181	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATCAGACCTGCCGCCCATGCC	0.428												
DNAH10	196385	broad.mit.edu	37	12	124395130	124395130	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:124395130A>G	uc001uft.3	+	58	9716	c.9691A>G	c.(9691-9693)AGC>GGC	p.S3231G		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3231	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAGCTGTCAGCAAAGCCGG	0.438												
SFRS8	6433	broad.mit.edu	37	12	132283990	132283990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:132283990C>T	uc001uja.1	+	18	2953	c.2813C>T	c.(2812-2814)GCG>GTG	p.A938V	SFRS8_uc010tbn.1_Missense_Mutation_p.A990V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	938	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AAAGTCAGAGCGATGCTTGCA	0.592												
EP400	57634	broad.mit.edu	37	12	132537749	132537749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:132537749C>T	uc001ujn.2	+	41	7488	c.7453C>T	c.(7453-7455)CGA>TGA	p.R2485*	EP400_uc001ujl.2_Nonsense_Mutation_p.R2484*|EP400_uc001ujm.2_Nonsense_Mutation_p.R2404*	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2521					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGTGCAGAGCGAATCGCAAA	0.517												
POLE	5426	broad.mit.edu	37	12	133210909	133210909	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133210909T>C	uc001uks.1	-	43	5911	c.5867A>G	c.(5866-5868)GAG>GGG	p.E1956G	POLE_uc001ukq.1_Missense_Mutation_p.E166G|POLE_uc001ukr.1_Missense_Mutation_p.E760G|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1956					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)		tctttcctcctcatcgtcctc	0.338								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
POLE	5426	broad.mit.edu	37	12	133220111	133220111	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133220111G>A	uc001uks.1	-	34	4370	c.4326C>T	c.(4324-4326)GGC>GGT	p.G1442G	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.G246G|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.G1415G	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1442					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)		CACACACACAGCCCAGGTGCA	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GOLGA3	2802	broad.mit.edu	37	12	133372766	133372766	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133372766G>A	uc001ukz.1	-	11	2700	c.2141C>T	c.(2140-2142)GCT>GTT	p.A714V	GOLGA3_uc001ula.1_Missense_Mutation_p.A714V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A714V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	714	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGCTGCAAAGCCTCAAGCTG	0.582												
GJB2	2706	broad.mit.edu	37	13	20763535	20763535	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:20763535G>A	uc001umy.2	-	2	401	c.186C>T	c.(184-186)AAC>AAT	p.N62N		NM_004004	NP_003995	P29033	CXB2_HUMAN	gap junction protein beta 2	62	Extracellular (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane					0		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CGTAGCACACGTTCTTGCAGC	0.572									Keratitis_Ichthyosis_and_Deafness_syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SACS	26278	broad.mit.edu	37	13	23942607	23942607	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:23942607C>T	uc001uon.2	-	5	868	c.279G>A	c.(277-279)ACG>ACA	p.T93T	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	93					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTGGTGGCGTTGTCTGAC	0.393												
WASF3	10810	broad.mit.edu	37	13	27250695	27250695	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:27250695C>T	uc001uqv.2	+	7	775	c.550C>T	c.(550-552)CGT>TGT	p.R184C	WASF3_uc001uqw.2_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	184	Potential.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGAGCAAAAGCGTATAGATGG	0.473												
FLT1	2321	broad.mit.edu	37	13	28880898	28880898	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:28880898G>A	uc001usb.3	-	29	4017	c.3732C>T	c.(3730-3732)GGC>GGT	p.G1244G	FLT1_uc010aap.2_Silent_p.G249G|FLT1_uc010aaq.2_Silent_p.G369G|FLT1_uc001usa.3_Silent_p.G462G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1244	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGCTGCTGTCGCCCTGGTAGT	0.552												
BRCA2	675	broad.mit.edu	37	13	32930746	32930746	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:32930746G>T	uc001uub.1	+	15	7844	c.7617G>T	c.(7615-7617)CAG>CAT	p.Q2539H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2539	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCATAAACAGGTATGTGTTT	0.393			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
KL	9365	broad.mit.edu	37	13	33591332	33591332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:33591332C>T	uc001uus.2	+	1	762	c.754C>T	c.(754-756)CGC>TGC	p.R252C	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	252	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGCCACCGGGCGCCTGGCCCC	0.706												
RFC3	5983	broad.mit.edu	37	13	34404130	34404130	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:34404130T>G	uc001uuz.2	+	5	659	c.549T>G	c.(547-549)CGT>CGG	p.R183R	RFC3_uc001uva.2_Silent_p.R183R|RFC3_uc010ted.1_Silent_p.R183R	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	183					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGGCGGTTCGTGTGCCTGCTC	0.393												
POSTN	10631	broad.mit.edu	37	13	38153466	38153466	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38153466A>C	uc001uwo.3	-	13	1809	c.1691T>G	c.(1690-1692)CTT>CGT	p.L564R	POSTN_uc010tet.1_Missense_Mutation_p.L92R|POSTN_uc001uwp.3_Missense_Mutation_p.L564R|POSTN_uc001uwr.2_Missense_Mutation_p.L564R|POSTN_uc001uwq.2_Missense_Mutation_p.L564R|POSTN_uc010teu.1_Missense_Mutation_p.L564R|POSTN_uc010tev.1_Missense_Mutation_p.L564R|POSTN_uc010tew.1_Missense_Mutation_p.L564R|POSTN_uc010tex.1_Missense_Mutation_p.L479R	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	564	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAGGTGATAAAGAATGATGTT	0.318												
POSTN	10631	broad.mit.edu	37	13	38160332	38160332	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38160332T>A	uc001uwo.3	-	7	957	c.839A>T	c.(838-840)GAG>GTG	p.E280V	POSTN_uc001uwp.3_Missense_Mutation_p.E280V|POSTN_uc001uwr.2_Missense_Mutation_p.E280V|POSTN_uc001uwq.2_Missense_Mutation_p.E280V|POSTN_uc010teu.1_Missense_Mutation_p.E280V|POSTN_uc010tev.1_Missense_Mutation_p.E280V|POSTN_uc010tew.1_Missense_Mutation_p.E280V|POSTN_uc010tex.1_Missense_Mutation_p.E195V	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	280	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGAAGTTTCTCAAAAGCCTC	0.478												
TRPC4	7223	broad.mit.edu	37	13	38211353	38211353	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38211353T>C	uc001uws.2	-	11	2856	c.2621A>G	c.(2620-2622)CAA>CGA	p.Q874R	TRPC4_uc010abv.2_Missense_Mutation_p.Q454R|TRPC4_uc001uwt.2_Missense_Mutation_p.Q790R|TRPC4_uc010tey.1_Missense_Mutation_p.Q733R|TRPC4_uc010abw.2_Missense_Mutation_p.Q701R|TRPC4_uc010abx.2_Missense_Mutation_p.Q879R|TRPC4_uc010aby.2_Missense_Mutation_p.Q725R	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	874	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCAGCCTGTTGACGAGCAAC	0.428												
FREM2	341640	broad.mit.edu	37	13	39263279	39263279	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:39263279C>A	uc001uwv.2	+	1	2107	c.1798C>A	c.(1798-1800)CTG>ATG	p.L600M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	600	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTTTTTGTGCTGGAGTCACC	0.552												
FREM2	341640	broad.mit.edu	37	13	39425965	39425965	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:39425965C>T	uc001uwv.2	+	11	7194	c.6885C>T	c.(6883-6885)GGC>GGT	p.G2295G	FREM2_uc001uww.2_Silent_p.G381G	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2295	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAAGGATGGCTCGGCCACCT	0.522												
FOXO1	2308	broad.mit.edu	37	13	41134405	41134405	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:41134405G>A	uc001uxl.3	-	2	1608	c.1223C>T	c.(1222-1224)GCG>GTG	p.A408V	FOXO1_uc010acc.1_Missense_Mutation_p.A223V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	408					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTTGGTGGCGCAAACGAGTA	0.478												
AKAP11	11215	broad.mit.edu	37	13	42873547	42873547	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:42873547C>T	uc001uys.1	+	8	840	c.665C>T	c.(664-666)ACG>ATG	p.T222M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	222					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCTTCCCAGACGGTTACTGGT	0.388												
AKAP11	11215	broad.mit.edu	37	13	42882736	42882736	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:42882736T>C	uc001uys.1	+	9	5439	c.5264T>C	c.(5263-5265)CTA>CCA	p.L1755P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1755	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTCATCATCTAAGTGAAAGG	0.328												
ZC3H13	23091	broad.mit.edu	37	13	46549790	46549790	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:46549790C>T	uc010tfw.1	-	11	2102	c.2096G>A	c.(2095-2097)CGG>CAG	p.R699Q	ZC3H13_uc001vas.1_Missense_Mutation_p.R699Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R699Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	699	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttctctttcccgatcccgttc	0.144												
ARL11	115761	broad.mit.edu	37	13	50204971	50204971	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:50204971C>G	uc001vdf.1	+	2	534	c.388C>G	c.(388-390)CTT>GTT	p.L130V		NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	130					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		ACCTGATGCACTTCCGCTGCT	0.617												
PCDH8	5100	broad.mit.edu	37	13	53420187	53420187	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:53420187C>T	uc001vhi.2	-	1	2588	c.2385G>A	c.(2383-2385)GCG>GCA	p.A795A	PCDH8_uc001vhj.2_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	795	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTccgccgcccgccgccccgg	0.632												
PCDH8	5100	broad.mit.edu	37	13	53420267	53420267	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:53420267C>T	uc001vhi.2	-	1	2508	c.2305G>A	c.(2305-2307)GCC>ACC	p.A769T	PCDH8_uc001vhj.2_Missense_Mutation_p.A769T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	769	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GTGGCGATGGCGATGATGGCG	0.607												
PCDH9	5101	broad.mit.edu	37	13	67801805	67801805	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:67801805T>C	uc001vik.2	-	2	1460	c.768A>G	c.(766-768)CAA>CAG	p.Q256Q	PCDH9_uc001vil.2_Silent_p.Q256Q|PCDH9_uc010thl.1_Silent_p.Q256Q|PCDH9_uc001vin.3_Silent_p.Q256Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	256	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCACCTCCACTTGACCCTCTT	0.473												
DACH1	1602	broad.mit.edu	37	13	72255949	72255949	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:72255949A>G	uc010thn.1	-	3	1365	c.942T>C	c.(940-942)TCT>TCC	p.S314S	DACH1_uc010tho.1_Silent_p.S314S|DACH1_uc010thp.1_Silent_p.S314S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTATCCCAGGAGACATGAGAC	0.443												
MYCBP2	23077	broad.mit.edu	37	13	77656029	77656029	+	Silent	SNP	G	G	A	rs138813052	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:77656029G>A	uc001vkf.2	-	65	11113	c.11022C>T	c.(11020-11022)GGC>GGT	p.G3674G	MYCBP2_uc010aev.2_Silent_p.G3078G|MYCBP2_uc001vke.2_Silent_p.G294G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTCACTATCGCCATCATCTG	0.393												
MYCBP2	23077	broad.mit.edu	37	13	77724964	77724964	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:77724964T>C	uc001vkf.2	-	48	7013	c.6922A>G	c.(6922-6924)ATG>GTG	p.M2308V	MYCBP2_uc010aev.2_Missense_Mutation_p.M1712V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2308	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATAAGTCATGTCAGTATTA	0.388												
SLAIN1	122060	broad.mit.edu	37	13	78337291	78337291	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:78337291C>A	uc010thy.1	+	7	1260	c.1217C>A	c.(1216-1218)CCT>CAT	p.P406H	SLAIN1_uc001vkk.1_Missense_Mutation_p.P329H|SLAIN1_uc001vkl.1_Missense_Mutation_p.P285H|SLAIN1_uc010thz.1_Missense_Mutation_p.P284H|SLAIN1_uc010aex.1_Missense_Mutation_p.P171H|SLAIN1_uc010aey.1_Missense_Mutation_p.P171H|SLAIN1_uc001vkm.2_Missense_Mutation_p.P285H	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	548										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTTCTTCAGCCTCCAAAGCCT	0.398												
POU4F1	5457	broad.mit.edu	37	13	79175910	79175910	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:79175910G>A	uc001vkv.2	-	2	1134	c.900C>T	c.(898-900)GGC>GGT	p.G300G	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	300	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCCCACGCCCGGGATCT	0.662												
MBNL2	10150	broad.mit.edu	37	13	97995269	97995269	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:97995269G>A	uc010aft.2	+	4	1156	c.340_splice	c.e4-1	p.P114_splice	MBNL2_uc001vmz.2_Splice_Site_p.P114_splice|MBNL2_uc001vna.2_Splice_Site_p.P114_splice|MBNL2_uc001vnb.2_Splice_Site|MBNL2_uc010tij.1_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1						mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TCCTTTAACAGCCCACTTTCC	0.418												
RNF113B	140432	broad.mit.edu	37	13	98829459	98829459	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:98829459G>A	uc001vnk.2	-	1	63	c.32C>T	c.(31-33)GCC>GTC	p.A11V	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTTGGTCGGCCGTCCTTCC	0.542												
FARP1	10160	broad.mit.edu	37	13	99061770	99061770	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:99061770C>T	uc001vnj.2	+	14	1929	c.1593C>T	c.(1591-1593)GGC>GGT	p.G531G	FARP1_uc001vnh.2_Silent_p.G531G	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	531					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGATGAGGGCCGGAGGAAGG	0.532												
SLC15A1	6564	broad.mit.edu	37	13	99337102	99337102	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:99337102C>T	uc001vno.2	-	23	2080	c.2003G>A	c.(2002-2004)CGG>CAG	p.R668Q		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	668	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AGTATAGAACCGAGCCATGAT	0.433												
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	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												
ITGBL1	9358	broad.mit.edu	37	13	102106322	102106322	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102106322T>C	uc001vpb.2	+	2	406	c.187T>C	c.(187-189)TGC>CGC	p.C63R	ITGBL1_uc010agb.2_Missense_Mutation_p.C63R|ITGBL1_uc001vpc.3_Intron	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	63	I.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCCGCGCTGTGCCACGGCCG	0.756												
ITGBL1	9358	broad.mit.edu	37	13	102227785	102227785	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102227785C>A	uc001vpb.2	+	4	693	c.474C>A	c.(472-474)CAC>CAA	p.H158Q	ITGBL1_uc010agb.2_Missense_Mutation_p.H109Q|ITGBL1_uc001vpc.3_Missense_Mutation_p.H17Q	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	158	III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACATGTCACTGTGGCAGGT	0.338												
FGF14	2259	broad.mit.edu	37	13	102568842	102568842	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102568842G>A	uc001vpe.2	-	1	154	c.154C>T	c.(154-156)CGC>TGC	p.R52C	FGF14_uc001vpf.2_Intron	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	52					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCGAAGATGCGCACTTTGGAG	0.672												
KDELC1	79070	broad.mit.edu	37	13	103443739	103443739	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:103443739G>A	uc001vpq.3	-	5	1098	c.714C>T	c.(712-714)GAC>GAT	p.D238D	KDELC1_uc001vpr.3_Silent_p.D19D	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	238						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCAAAGGCCAGTCTCCCAAAT	0.403												
MYO16	23026	broad.mit.edu	37	13	109779804	109779804	+	Silent	SNP	G	G	A	rs151007439		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:109779804G>A	uc001vqt.1	+	31	4017	c.3891G>A	c.(3889-3891)CCG>CCA	p.P1297P	MYO16_uc010agk.1_Silent_p.P1319P|MYO16_uc010tjh.1_Silent_p.P809P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1297					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AACAGCCCCCGCCCAAGCCAA	0.652												
MCF2L	23263	broad.mit.edu	37	13	113731454	113731454	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:113731454G>T	uc001vsu.2	+	13	1782	c.1760G>T	c.(1759-1761)AGG>ATG	p.R587M	MCF2L_uc001vsq.2_Missense_Mutation_p.R587M|MCF2L_uc010tjr.1_Missense_Mutation_p.R530M|MCF2L_uc001vsr.2_Missense_Mutation_p.R534M|MCF2L_uc001vss.3_Missense_Mutation_p.R528M|MCF2L_uc010tjs.1_Missense_Mutation_p.R528M|MCF2L_uc001vst.1_Missense_Mutation_p.R492M	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	560					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGGCGGCCAGGCAGACGCGG	0.692												
F10	2159	broad.mit.edu	37	13	113783775	113783775	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:113783775G>A	uc001vsx.2	+	2	137	c.80G>A	c.(79-81)CGC>CAC	p.R27H	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.R27H|F10_uc001vsz.2_Missense_Mutation_p.R27H	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	27					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTTCATCCGCAGGGAGCAG	0.567												
RASA3	22821	broad.mit.edu	37	13	114781736	114781736	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:114781736G>A	uc001vui.2	-	13	1349	c.1218C>T	c.(1216-1218)AGC>AGT	p.S406S	RASA3_uc010tkk.1_Silent_p.S374S|RASA3_uc001vuj.2_Silent_p.S23S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	406	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGGGTTTGTGGCTCTGGCATA	0.527												
OR4Q3	441669	broad.mit.edu	37	14	20215646	20215646	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20215646T>C	uc010tkt.1	+	1	60	c.60T>C	c.(58-60)TCT>TCC	p.S20S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCATCTTCTTGGGAGCTGC	0.368												
OR4N2	390429	broad.mit.edu	37	14	20295916	20295916	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20295916C>T	uc010tkv.1	+	1	309	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTCTTTTTCTTGCACTTCC	0.517												
PARP2	10038	broad.mit.edu	37	14	20824490	20824490	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20824490A>G	uc001vxc.2	+	12	1193	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PARP2_uc001vxd.2_Missense_Mutation_p.T376A|PARP2_uc001vxb.1_Missense_Mutation_p.T389A|PARP2_uc010tle.1_Missense_Mutation_p.T139A	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	389	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CCTACAATCTACCCATGCTCC	0.438								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
RNASE11	122651	broad.mit.edu	37	14	21052507	21052507	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:21052507C>A	uc010ahv.2	-	2	312	c.127G>T	c.(127-129)GGC>TGC	p.G43C	RNASE11_uc010ahx.2_Missense_Mutation_p.G43C|RNASE11_uc010ahw.2_Missense_Mutation_p.G43C|RNASE11_uc001vxs.2_Missense_Mutation_p.G43C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	43						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TTTTCTTGGCCACTTTTTGCC	0.398												
BCL2L2	599	broad.mit.edu	37	14	23778068	23778068	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23778068C>T	uc001wjg.3	+	4	664	c.476C>T	c.(475-477)GCG>GTG	p.A159V	PABPN1_uc001wjh.3_Intron|BCL2L2_uc001wji.3_Missense_Mutation_p.A159V	NM_004050	NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2 protein	159					anti-apoptosis|apoptosis|spermatogenesis	mitochondrial membrane	protein binding			central_nervous_system(1)	1	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGAGGAGGCGCGGCGTCTG	0.597												
MYH6	4624	broad.mit.edu	37	14	23857097	23857097	+	Silent	SNP	C	C	T	rs74039310	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23857097C>T	uc001wjv.2	-	31	4462	c.4395G>A	c.(4393-4395)TCG>TCA	p.S1465S		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1465	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCAGACTGCGACTCCTCAT	0.607												
AP1G2	8906	broad.mit.edu	37	14	24031515	24031515	+	Missense_Mutation	SNP	C	C	T	rs142884247	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24031515C>T	uc001wkl.2	-	16	1947	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	AP1G2_uc001wkj.2_Missense_Mutation_p.R156H|AP1G2_uc001wkk.3_Missense_Mutation_p.R465H|AP1G2_uc001wkn.2_Missense_Mutation_p.R156H|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	537					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCACAGAGGCGAGTGCTGAG	0.562											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JPH4	84502	broad.mit.edu	37	14	24045186	24045186	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24045186G>A	uc001wkq.2	-	4	1777	c.859C>T	c.(859-861)CGC>TGC	p.R287C	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.R287C|JPH4_uc001wks.2_Missense_Mutation_p.R287C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	287	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CGATCTGCGCGCCACTCGCCC	0.632												
LRRC16B	90668	broad.mit.edu	37	14	24531964	24531964	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24531964G>A	uc001wlj.2	+	29	2772	c.2615G>A	c.(2614-2616)TGC>TAC	p.C872Y	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	872										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCACCAGGGTGCCCAGGCCAA	0.627												
RNF31	55072	broad.mit.edu	37	14	24626754	24626754	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24626754C>T	uc001wmn.1	+	16	2883	c.2634C>T	c.(2632-2634)TAC>TAT	p.Y878Y	RNF31_uc001wml.1_Silent_p.Y727Y|RNF31_uc010alg.1_Silent_p.Y637Y|RNF31_uc001wmo.1_Silent_p.Y345Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Silent_p.Y62Y	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	878	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGTTCTCGTACGCCCTGGCCC	0.582												
ADCY4	196883	broad.mit.edu	37	14	24798413	24798413	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24798413C>T	uc001wov.2	-	10	1384	c.1378G>A	c.(1378-1380)GCA>ACA	p.A460T	ADCY4_uc001wow.2_Missense_Mutation_p.A460T|ADCY4_uc010toh.1_Missense_Mutation_p.A146T|ADCY4_uc001wox.2_Missense_Mutation_p.A460T|ADCY4_uc001woy.2_Missense_Mutation_p.A460T	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	460	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AAGCCTCCTGCAGTGCCCTTC	0.602												
BAZ1A	11177	broad.mit.edu	37	14	35234330	35234330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:35234330G>A	uc001wsk.2	-	22	4014	c.3446C>T	c.(3445-3447)GCG>GTG	p.A1149V	BAZ1A_uc001wsl.2_Missense_Mutation_p.A1117V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1149	PHD-type.				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)		CTTGCAACGCGCATTCAGTAT	0.443												
PPP2R3C	55012	broad.mit.edu	37	14	35564389	35564389	+	Silent	SNP	G	G	A	rs61741202		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:35564389G>A	uc001wss.2	-	10	1194	c.840C>T	c.(838-840)GGC>GGT	p.G280G	PPP2R3C_uc001wst.2_Silent_p.G164G|PPP2R3C_uc010tpr.1_Silent_p.G164G|PPP2R3C_uc001wsu.2_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	280	EF-hand 1.					centrosome|nucleus	calcium ion binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCAAGTACTGGCCTTGGGAAG	0.333												
RALGAPA1	253959	broad.mit.edu	37	14	36190894	36190894	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:36190894C>T	uc001wti.2	-	16	2657	c.2266G>A	c.(2266-2268)GAT>AAT	p.D756N	RALGAPA1_uc001wtj.2_Missense_Mutation_p.D756N|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D756N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.A756T|RALGAPA1_uc001wtk.1_Missense_Mutation_p.A607T	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	756					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GAGTACATACCGACAGTTTTT	0.408												
NKX2-8	26257	broad.mit.edu	37	14	37051674	37051674	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:37051674G>A	uc001wtx.2	-	1	113	c.-79C>T	c.(-81--77)CACGC>CATGC			NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8						liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		ACGGATGGGCGTGGGAGGCGC	0.652												
PYGL	5836	broad.mit.edu	37	14	51376807	51376807	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:51376807T>C	uc001wyu.2	-	17	2110	c.1983A>G	c.(1981-1983)ACA>ACG	p.T661T	PYGL_uc010tqq.1_Silent_p.T627T|PYGL_uc001wyv.2_Silent_p.T335T|PYGL_uc001wyt.2_5'Flank	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	661					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CTGACAGATCTGTGGCTGGAA	0.433												
TBPL2	387332	broad.mit.edu	37	14	55895632	55895632	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:55895632G>A	uc001xby.2	-	5	849	c.849C>T	c.(847-849)TTC>TTT	p.F283F		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	283					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						ATCTGGCAGGGAACCCAAGCT	0.463												
MUDENG	55745	broad.mit.edu	37	14	57741365	57741365	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:57741365C>T	uc001xcv.2	+	2	905	c.478C>T	c.(478-480)CCT>TCT	p.P160S	MUDENG_uc001xcu.3_Missense_Mutation_p.P160S|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.P57S	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	160					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						GAGCCAGTTGCCTGACTTGCT	0.373												
ARID4A	5926	broad.mit.edu	37	14	58790255	58790255	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:58790255C>T	uc001xdp.2	+	8	756	c.502C>T	c.(502-504)CGC>TGC	p.R168C	ARID4A_uc001xdo.2_Missense_Mutation_p.R168C|ARID4A_uc001xdq.2_Missense_Mutation_p.R168C	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	168					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TGAAGACAAGCGCCGTCTCAA	0.368												
SIX1	6495	broad.mit.edu	37	14	61115595	61115595	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:61115595C>T	uc001xfb.3	-	1	561	c.313G>A	c.(313-315)GCC>ACC	p.A105T		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	105					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGCCCACGGCGCCCAGGGGT	0.627												
SYT16	83851	broad.mit.edu	37	14	62541932	62541932	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:62541932G>T	uc001xfu.1	+	3	1013	c.816G>T	c.(814-816)CAG>CAT	p.Q272H	SYT16_uc010tsd.1_Missense_Mutation_p.Q272H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	272										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTCACTCACAGTCCCCATGTG	0.517												
GPHB5	122876	broad.mit.edu	37	14	63784472	63784472	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:63784472C>T	uc010apu.2	-	1	92	c.92G>A	c.(91-93)CGC>CAC	p.R31H	GPHB5_uc001xgc.2_Missense_Mutation_p.R21H	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	glycoprotein beta 5	31						extracellular region	hormone activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CACAAAGGTGCGCAGGTTCCC	0.617												
PLEKHG3	26030	broad.mit.edu	37	14	65209760	65209760	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:65209760G>T	uc001xho.1	+	17	3268	c.2999G>T	c.(2998-3000)AGC>ATC	p.S1000I	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S944I|PLEKHG3_uc001xhp.2_Missense_Mutation_p.S1121I|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S542I|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S505I	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1000					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGAGCACAGCCCTCCCAAG	0.617												
ADAM20	8748	broad.mit.edu	37	14	70989840	70989840	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:70989840A>G	uc001xme.2	-	2	2030	c.1785T>C	c.(1783-1785)GGT>GGC	p.G595G		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	545	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCCTACAATACCACAGTGAC	0.418												
HEATR4	399671	broad.mit.edu	37	14	73976119	73976119	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:73976119A>C	uc010tub.1	-	8	1939	c.1617T>G	c.(1615-1617)TGT>TGG	p.C539W	HEATR4_uc010tua.1_Missense_Mutation_p.C492W	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATTCTTGTCACAAAGAGCAG	0.517												
ISCA2	122961	broad.mit.edu	37	14	74961032	74961032	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:74961032G>A	uc001xpz.2	+	3	257	c.229G>A	c.(229-231)GGT>AGT	p.G77S	NPC2_uc001xpy.2_5'Flank|NPC2_uc010tus.1_5'Flank	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2 precursor	77					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGTGGAGGGAGGTGGATGCTC	0.522												
BATF	10538	broad.mit.edu	37	14	76012964	76012964	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:76012964G>A	uc001xrr.2	+	3	570	c.328G>A	c.(328-330)GCC>ACC	p.A110T		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	110						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		GGTGTACAGCGCCCACGCATT	0.662												
TTLL5	23093	broad.mit.edu	37	14	76243106	76243106	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:76243106C>A	uc001xrx.2	+	23	2505	c.2300C>A	c.(2299-2301)GCT>GAT	p.A767D	TTLL5_uc010ask.1_Missense_Mutation_p.A781D|TTLL5_uc001xrz.2_Missense_Mutation_p.A342D|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	767					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAACAAATGGCTGAAAAGAAA	0.378												
VASH1	22846	broad.mit.edu	37	14	77245316	77245316	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:77245316G>T	uc001xst.2	+	7	1983	c.1053G>T	c.(1051-1053)GAG>GAT	p.E351D		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	351	Involved in heparin-binding and antiangiogenic activity.				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGACTTCCGAGCCCAAAGCCA	0.632												
C14orf166B	145497	broad.mit.edu	37	14	77302606	77302606	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:77302606C>T	uc001xsx.2	+	4	561	c.447C>T	c.(445-447)GGC>GGT	p.G149G	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	149	LRR 1.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGGAGGAGGGCGTCTTGAGCC	0.542												
TSHR	7253	broad.mit.edu	37	14	81609866	81609866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:81609866G>A	uc001xvd.1	+	10	1620	c.1464G>A	c.(1462-1464)TGG>TGA	p.W488*		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	488	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATCGACTGGCAGACAGGCC	0.547			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
FLRT2	23768	broad.mit.edu	37	14	86088364	86088364	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:86088364A>C	uc001xvr.2	+	2	1273	c.506A>C	c.(505-507)AAT>ACT	p.N169T	FLRT2_uc010atd.2_Missense_Mutation_p.N169T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	169	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGTCTAAGAATCACCTGAGC	0.502												
KCNK13	56659	broad.mit.edu	37	14	90528736	90528736	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:90528736G>A	uc001xye.1	+	1	629	c.187G>A	c.(187-189)GGC>AGC	p.G63S		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	63						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CTTCAGCCGCGGCCACAACCT	0.736												
RIN3	79890	broad.mit.edu	37	14	93022170	93022170	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:93022170C>T	uc001yap.2	+	2	271	c.119C>T	c.(118-120)CCG>CTG	p.P40L	RIN3_uc010auk.2_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	40					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCAGCCAACCCGAAAAACTGC	0.552												
BTBD7	55727	broad.mit.edu	37	14	93760654	93760654	+	Missense_Mutation	SNP	G	G	A	rs143569452		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:93760654G>A	uc001ybo.2	-	3	1038	c.712C>T	c.(712-714)CGT>TGT	p.R238C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R153C|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R153C|BTBD7_uc001ybr.2_Missense_Mutation_p.R238C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	238										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAGAGTCCACGCATATCTACA	0.383												
DDX24	57062	broad.mit.edu	37	14	94526684	94526684	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:94526684G>A	uc001ycj.2	-	5	1772	c.1673C>T	c.(1672-1674)GCC>GTC	p.A558V	DDX24_uc010twq.1_Missense_Mutation_p.A515V|DDX24_uc010twr.1_Missense_Mutation_p.A308V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	558					RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTCCACCGTGGCCTCATTCCT	0.473												
SETD3	84193	broad.mit.edu	37	14	99865440	99865440	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:99865440T>G	uc001ygc.2	-	13	1531	c.1361A>C	c.(1360-1362)AAC>ACC	p.N454T		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	454					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAGATCGTGGTTTTTCAAGAC	0.318												
C14orf73	91828	broad.mit.edu	37	14	103573803	103573803	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:103573803G>A	uc001ymk.2	+	8	1700	c.1624G>A	c.(1624-1626)GAC>AAC	p.D542N		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	542											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GCTGACGCAGGACTGGCTGCA	0.657												
AHNAK2	113146	broad.mit.edu	37	14	105414444	105414444	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105414444G>A	uc010axc.1	-	7	7464	c.7344C>T	c.(7342-7344)AGC>AGT	p.S2448S	AHNAK2_uc001ypx.2_Silent_p.S2348S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2448						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCACCTCCACGCTGGGCTGAG	0.632												
AHNAK2	113146	broad.mit.edu	37	14	105419396	105419396	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105419396T>C	uc010axc.1	-	7	2512	c.2392A>G	c.(2392-2394)AGC>GGC	p.S798G	AHNAK2_uc001ypx.2_Missense_Mutation_p.S698G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	798						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCATGCTGGACAGAGAC	0.617												
CYFIP1	23191	broad.mit.edu	37	15	22929769	22929769	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:22929769G>T	uc001yus.2	+	6	547	c.443G>T	c.(442-444)AGG>ATG	p.R148M	CYFIP1_uc001yut.2_Missense_Mutation_p.R148M|CYFIP1_uc010aya.1_Missense_Mutation_p.R176M	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	148					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CATGCCGAGAGGAGGAAGGAC	0.547												
CYFIP1	23191	broad.mit.edu	37	15	23002965	23002965	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:23002965C>T	uc001yus.2	+	31	3791	c.3687C>T	c.(3685-3687)GGC>GGT	p.G1229G	CYFIP1_uc001yut.2_Silent_p.G1229G|CYFIP1_uc001yuu.2_Silent_p.G798G|CYFIP1_uc001yuv.2_Silent_p.G423G	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1229					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGAAGTCAGGCGACGGGGAGG	0.567												
GABRB3	2562	broad.mit.edu	37	15	26793230	26793230	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:26793230T>C	uc001zaz.2	-	9	1274	c.1132A>G	c.(1132-1134)ATG>GTG	p.M378V	GABRB3_uc010uae.1_Missense_Mutation_p.M293V|GABRB3_uc001zba.2_Missense_Mutation_p.M378V|GABRB3_uc001zbb.2_Missense_Mutation_p.M434V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	378	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCTCATTCATTTCATTGTGA	0.453												
GABRB3	2562	broad.mit.edu	37	15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:26825568G>A	uc001zaz.2	-	6	722	c.580C>T	c.(580-582)CGA>TGA	p.R194*	GABRB3_uc010uae.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zba.2_Nonsense_Mutation_p.R194*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.R250*	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	194	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCCGCCTCGCCAGTAAAAC	0.517												
OCA2	4948	broad.mit.edu	37	15	28196964	28196964	+	Silent	SNP	G	G	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:28196964G>C	uc001zbh.3	-	18	2027	c.1917C>G	c.(1915-1917)CTC>CTG	p.L639L	OCA2_uc010ayv.2_Silent_p.L615L	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	639	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAACGAATTGAGGAAAAACA	0.433									Oculocutaneous_Albinism			
RYR3	6263	broad.mit.edu	37	15	34049795	34049795	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:34049795C>T	uc001zhi.2	+	60	8773	c.8703C>T	c.(8701-8703)GCC>GCT	p.A2901A	RYR3_uc010bar.2_Silent_p.A2901A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAATGGTGGCCGGGTGAGTCT	0.478												
SPRED1	161742	broad.mit.edu	37	15	38591731	38591731	+	Nonsense_Mutation	SNP	C	C	T	rs121434315		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:38591731C>T	uc001zka.3	+	2	525	c.190C>T	c.(190-192)CGA>TGA	p.R64*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	64	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCGTGGAGAGCGACTCAGGGA	0.373									Legius_syndrome			
THBS1	7057	broad.mit.edu	37	15	39886303	39886303	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:39886303C>T	uc001zkh.2	+	20	3450	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	THBS1_uc010bbi.2_Missense_Mutation_p.R563C	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1091	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCTTCAGGTGCGCACCCTGTG	0.473												
PAK6	56924	broad.mit.edu	37	15	40558161	40558161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:40558161G>A	uc010bbl.2	+	5	763	c.323G>A	c.(322-324)CGG>CAG	p.R108Q	PAK6_uc010bbm.2_Missense_Mutation_p.R108Q|PAK6_uc001zky.3_Missense_Mutation_p.R108Q|PAK6_uc010bbn.2_Missense_Mutation_p.R108Q|PAK6_uc001zlb.2_Missense_Mutation_p.R108Q	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	108	Linker.						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)		CCCACCAGCCGGCGGCGGGCA	0.662												
ZFP106	64397	broad.mit.edu	37	15	42731306	42731306	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:42731306G>A	uc001zpw.2	-	8	4735	c.4400C>T	c.(4399-4401)ACG>ATG	p.T1467M	ZFP106_uc001zpu.2_Missense_Mutation_p.T565M|ZFP106_uc001zpv.2_Missense_Mutation_p.T652M|ZFP106_uc001zpx.2_Missense_Mutation_p.T695M	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1467						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGAACGAGACGTTTCTAGTGG	0.423												
EPB42	2038	broad.mit.edu	37	15	43508551	43508551	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:43508551C>T	uc001zra.3	-	2	411	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Silent_p.Q67Q|EPB42_uc010udm.1_Silent_p.Q37Q	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	37	Band 3 binding (By similarity).				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGTGAAGGGCTGCCCCCTCC	0.582												
DUOX1	53905	broad.mit.edu	37	15	45453118	45453118	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:45453118C>T	uc001zus.1	+	30	4132	c.3786C>T	c.(3784-3786)GGC>GGT	p.G1262G	DUOX1_uc001zut.1_Silent_p.G1262G|DUOX1_uc010bee.1_Silent_p.G642G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1262	Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCTATGGGGGCGACAAGCTGG	0.577												
FBN1	2200	broad.mit.edu	37	15	48722881	48722881	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:48722881T>C	uc001zwx.1	-	56	7186	c.6858A>G	c.(6856-6858)GGA>GGG	p.G2286G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2286	EGF-like 39; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAGCCTTCTCCATCAGGTC	0.483												
FBN1	2200	broad.mit.edu	37	15	48812973	48812973	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:48812973G>A	uc001zwx.1	-	10	1358	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAGAGCAGCGCCCGTTTGTC	0.517												
COPS2	9318	broad.mit.edu	37	15	49422919	49422919	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:49422919C>T	uc001zxf.2	-	10	1121	c.1042G>A	c.(1042-1044)GAA>AAA	p.E348K	COPS2_uc001zxh.2_Missense_Mutation_p.E355K|COPS2_uc010ufa.1_Missense_Mutation_p.E284K	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	348	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AACATACCTTCAATGTGTTCT	0.348												
DMXL2	23312	broad.mit.edu	37	15	51799444	51799444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:51799444C>T	uc002abf.2	-	16	2876	c.2651G>A	c.(2650-2652)CGC>CAC	p.R884H	DMXL2_uc010ufy.1_Missense_Mutation_p.R884H|DMXL2_uc010bfa.2_Missense_Mutation_p.R884H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	884	WD 7.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGGTGGTGGGCGGTATCCTAT	0.328												
SCG3	29106	broad.mit.edu	37	15	51974034	51974034	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:51974034G>T	uc002abh.2	+	1	490	c.82G>T	c.(82-84)GAC>TAC	p.D28Y	SCG3_uc010ufz.1_5'UTR	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	28					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		AGGAAGCCAAGGTATGTGAAC	0.488												
LEO1	123169	broad.mit.edu	37	15	52244057	52244057	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:52244057C>T	uc002abo.2	-	9	1611	c.1595G>A	c.(1594-1596)CGC>CAC	p.R532H	LEO1_uc010bfd.2_Missense_Mutation_p.R472H	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	532					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		CATTTCTGTGCGTTGGCATTC	0.418												
PRTG	283659	broad.mit.edu	37	15	55972291	55972291	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:55972291G>A	uc002adg.2	-	6	982	c.934C>T	c.(934-936)CGC>TGC	p.R312C		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	312	Ig-like 3.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTAAAGTTGCGTGTGCCAGGG	0.403												
APH1B	83464	broad.mit.edu	37	15	63569850	63569850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:63569850G>A	uc002ama.2	+	1	102	c.28G>A	c.(28-30)GCC>ACC	p.A10T	APH1B_uc002amb.2_Missense_Mutation_p.A10T|APH1B_uc010bgq.2_5'UTR|APH1B_uc010bgr.2_5'Flank	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	10	Helical; Name=1; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						CTTCGGCTGCGCCTTCATTGC	0.687												
PARP16	54956	broad.mit.edu	37	15	65555539	65555539	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65555539G>T	uc002aoo.2	-	4	893	c.639C>A	c.(637-639)GCC>GCA	p.A213A	PARP16_uc002aop.2_Silent_p.A98A|PARP16_uc002aoq.2_Silent_p.A213A	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	213	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CCTCACACACGGCCACACAGC	0.597												
IGDCC3	9543	broad.mit.edu	37	15	65623855	65623855	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65623855G>A	uc002aos.2	-	8	1543	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	431	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GAGACTGCCCGCACATTGCGG	0.627												
SLC24A1	9187	broad.mit.edu	37	15	65917329	65917329	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65917329C>T	uc010ujf.1	+	2	1198	c.911C>T	c.(910-912)CCG>CTG	p.P304L	SLC24A1_uc010ujd.1_Missense_Mutation_p.P304L|SLC24A1_uc010uje.1_Missense_Mutation_p.P304L|SLC24A1_uc010ujg.1_Missense_Mutation_p.P304L|SLC24A1_uc010ujh.1_Missense_Mutation_p.P304L	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	304	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AAGAGCAACCCGAAGACTCCC	0.547												
CLN6	54982	broad.mit.edu	37	15	68506646	68506646	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68506646C>T	uc002arf.2	-	3	437	c.279G>A	c.(277-279)ACG>ACA	p.T93T	CLN6_uc010ujy.1_Missense_Mutation_p.R59H|CLN6_uc010ujz.1_Silent_p.T125T	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	93	Helical; (Potential).				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						AGAGAAAGGGCGTGATGACGT	0.547												
ITGA11	22801	broad.mit.edu	37	15	68612623	68612623	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68612623G>A	uc002ari.2	-	20	2603	c.2516C>T	c.(2515-2517)GCG>GTG	p.A839V	ITGA11_uc010bib.2_Missense_Mutation_p.A839V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	839	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GGCCTCCACCGCCACTCGCTG	0.582												
LRRC49	54839	broad.mit.edu	37	15	71185961	71185961	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:71185961G>A	uc002asw.2	+	2	334	c.87G>A	c.(85-87)TCG>TCA	p.S29S	LRRC49_uc002asu.2_Silent_p.S19S|LRRC49_uc002asx.2_5'UTR|LRRC49_uc010ukf.1_Silent_p.S29S|LRRC49_uc002asy.2_5'Flank|LRRC49_uc002asz.2_5'Flank|THAP10_uc002asv.2_5'Flank	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	29						cytoplasm|microtubule				ovary(1)	1						AAACATCATCGCTTCCTGAAA	0.299												
THSD4	79875	broad.mit.edu	37	15	71535125	71535125	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:71535125C>A	uc002atb.1	+	4	681	c.602C>A	c.(601-603)TCC>TAC	p.S201Y	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	201	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CATTCCAGGTCCCAGGGAGCA	0.577												
ARIH1	25820	broad.mit.edu	37	15	72874426	72874426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:72874426C>T	uc002aut.3	+	13	1801	c.1487C>T	c.(1486-1488)GCA>GTA	p.A496V		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	496					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						AATAACCAAGCAGATCTAGAG	0.378												
HCN4	10021	broad.mit.edu	37	15	73617459	73617459	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:73617459C>T	uc002avp.2	-	6	2809	c.1815G>A	c.(1813-1815)ACG>ACA	p.T605T		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	605	Cytoplasmic (Potential).|cAMP.				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)		TCAGCATGGACGTCACGAAGT	0.557												
GOLGA6A	342096	broad.mit.edu	37	15	74368307	74368307	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:74368307G>A	uc002axa.1	-	8	625	c.584C>T	c.(583-585)GCG>GTG	p.A195V		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	195	Potential.										0						CTGGAGGACCGCTTCTCTGCA	0.557												
CCDC33	80125	broad.mit.edu	37	15	74623083	74623083	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:74623083G>A	uc002axo.2	+	13	1930	c.1536G>A	c.(1534-1536)GAG>GAA	p.E512E	CCDC33_uc002axp.2_Silent_p.E334E|CCDC33_uc002axq.2_Silent_p.E105E|CCDC33_uc002axr.2_Silent_p.E105E	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	715	Potential.						protein binding			ovary(3)|skin(2)	5						TGCAGAATGAGCTGATTCGAG	0.572												
FAH	2184	broad.mit.edu	37	15	80454663	80454663	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:80454663C>T	uc002bfj.2	+	6	522	c.440C>T	c.(439-441)GCG>GTG	p.A147V	FAH_uc002bfk.1_Missense_Mutation_p.A147V|FAH_uc002bfm.1_Missense_Mutation_p.A147V|FAH_uc002bfn.1_Missense_Mutation_p.A77V|FAH_uc010unl.1_Silent_p.C168C|FAH_uc002bfl.1_Missense_Mutation_p.A147V	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	147					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						AAGGAGAATGCGTTGATGCCA	0.458									Tyrosinemia_type_1			
ARNT2	9915	broad.mit.edu	37	15	80869226	80869226	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:80869226C>T	uc002bfr.2	+	15	1699	c.1533C>T	c.(1531-1533)AGC>AGT	p.S511S	ARNT2_uc010unm.1_Silent_p.S500S|ARNT2_uc002bfs.2_Silent_p.S500S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	511					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGATGATGAGCTCAGCCTCTG	0.582												
AKAP13	11214	broad.mit.edu	37	15	86266404	86266404	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:86266404C>T	uc002blv.1	+	26	6768	c.6598C>T	c.(6598-6600)CGT>TGT	p.R2200C	AKAP13_uc002blu.1_Missense_Mutation_p.R2204C|AKAP13_uc010bnf.1_Missense_Mutation_p.R821C|AKAP13_uc002blw.1_Missense_Mutation_p.R665C|AKAP13_uc002blx.1_Missense_Mutation_p.R445C	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2200	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAGAAAGTGCGTCTCAATGA	0.428												
AGBL1	123624	broad.mit.edu	37	15	86790991	86790991	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:86790991G>A	uc002blz.1	+	6	558	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	160					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CACAGCCAACGCCTACGTGCA	0.632												
C15orf42	90381	broad.mit.edu	37	15	90170255	90170255	+	Missense_Mutation	SNP	C	C	T	rs151193931		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:90170255C>T	uc002boe.2	+	22	5671	c.5671C>T	c.(5671-5673)CGC>TGC	p.R1891C	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1891					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCAGGAGGCGCCCCATCAG	0.498												
C15orf58	390637	broad.mit.edu	37	15	90784507	90784507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:90784507C>T	uc002bpc.2	+	4	546	c.367C>T	c.(367-369)CAG>TAG	p.Q123*		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	123					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						TGACCCTGTACAGTTCAACTT	0.577												
BLM	641	broad.mit.edu	37	15	91333930	91333930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:91333930C>T	uc002bpr.2	+	15	2972	c.2875C>T	c.(2875-2877)CGA>TGA	p.R959*	BLM_uc010uqh.1_Nonsense_Mutation_p.R959*|BLM_uc010uqi.1_Nonsense_Mutation_p.R584*|BLM_uc010bnx.2_Nonsense_Mutation_p.R959*|BLM_uc002bps.1_Nonsense_Mutation_p.R521*	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	959	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACCGGACGTGCGATTTGTGAT	0.423			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
CHD2	1106	broad.mit.edu	37	15	93482905	93482905	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:93482905G>A	uc002bsp.2	+	7	1224	c.649G>A	c.(649-651)GCT>ACT	p.A217T	CHD2_uc002bsm.1_Missense_Mutation_p.A217T|CHD2_uc002bsn.2_Missense_Mutation_p.A217T|CHD2_uc002bso.1_Missense_Mutation_p.A217T|CHD2_uc010urb.1_Missense_Mutation_p.A230T	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	217					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)			TGATGACGAAGCTCCCAAAAG	0.443												
CHD2	1106	broad.mit.edu	37	15	93547920	93547920	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:93547920G>A	uc002bsp.2	+	34	4927	c.4352G>A	c.(4351-4353)AGT>AAT	p.S1451N	CHD2_uc002bso.1_Missense_Mutation_p.S1451N	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1451					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)			ACAGCAGGAAGTGAACCTGTC	0.468												
OR4F15	390649	broad.mit.edu	37	15	102359245	102359245	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:102359245A>G	uc010uts.1	+	1	856	c.856A>G	c.(856-858)ATC>GTC	p.I286V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAATCCAGTTATCTACACATT	0.398												
AXIN1	8312	broad.mit.edu	37	16	396908	396908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:396908C>T	uc002cgp.1	-	2	295	c.118G>A	c.(118-120)GCC>ACC	p.A40T	AXIN1_uc002cgq.1_Missense_Mutation_p.A40T	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	40					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGTAGCTGGCGGGCCTCGGG	0.612												
SOLH	6650	broad.mit.edu	37	16	599089	599089	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:599089C>T	uc002chi.2	+	5	1909	c.1546C>T	c.(1546-1548)CTG>TTG	p.L516L		NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	516	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				GAGGCAGTGGCTGCGACCCCA	0.642												
C16orf11	146325	broad.mit.edu	37	16	613643	613643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:613643G>A	uc002chk.2	+	2	628	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	117	Pro-rich.									central_nervous_system(1)	1						GCCTGACCTCGTGGTCGCCGA	0.736												
IGFALS	3483	broad.mit.edu	37	16	1841355	1841355	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:1841355G>A	uc002cmy.2	-	2	1145	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	IGFALS_uc010uvn.1_Missense_Mutation_p.A393V|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	355	LRR 12.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GAAAGCGCCCGCCTTGACCTC	0.652												
PKD1	5310	broad.mit.edu	37	16	2147444	2147444	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2147444C>T	uc002cos.1	-	33	10490	c.10281G>A	c.(10279-10281)CCG>CCA	p.P3427P	PKD1_uc002cot.1_Silent_p.P3426P|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3427	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCACAATGGACGGGTCACTGA	0.687												
PKD1	5310	broad.mit.edu	37	16	2161489	2161489	+	Missense_Mutation	SNP	C	C	T	rs150710956	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2161489C>T	uc002cos.1	-	15	3888	c.3679G>A	c.(3679-3681)GCC>ACC	p.A1227T	PKD1_uc002cot.1_Missense_Mutation_p.A1227T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1227	PKD 7.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACCACGGGGGCGCCCTGCTCC	0.697												
MLST8	64223	broad.mit.edu	37	16	2258808	2258808	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2258808T>A	uc002coz.2	+	9	1030	c.911T>A	c.(910-912)ATC>AAC	p.I304N	MLST8_uc002cpa.2_Missense_Mutation_p.I120N|MLST8_uc002cpb.2_Missense_Mutation_p.I303N|MLST8_uc010uvx.1_Missense_Mutation_p.I238N|MLST8_uc002cpc.2_Missense_Mutation_p.I304N|MLST8_uc002cpd.2_Missense_Mutation_p.I238N|MLST8_uc002cpe.2_Missense_Mutation_p.I304N|MLST8_uc002cpg.2_Missense_Mutation_p.I323N|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.I304N	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	304	WD 7.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						ACTGGAGAGATCAAGAGAGAG	0.622												
E4F1	1877	broad.mit.edu	37	16	2279661	2279661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2279661G>A	uc002cpm.2	+	3	448	c.400G>A	c.(400-402)GCA>ACA	p.A134T	E4F1_uc010bsi.2_Missense_Mutation_p.A134T|E4F1_uc010bsj.2_Missense_Mutation_p.A134T	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	134					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CATCAGCCACGCATCTGACCT	0.627												
CLDN9	9080	broad.mit.edu	37	16	3063540	3063540	+	Silent	SNP	G	G	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3063540G>C	uc010uwo.1	+	1	1084	c.177G>C	c.(175-177)ACG>ACC	p.T59T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	59	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGCAGAGCACGGGCCAGATGC	0.662												
OR2C1	4993	broad.mit.edu	37	16	3406837	3406837	+	Silent	SNP	C	C	T	rs143663049		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3406837C>T	uc002cuw.1	+	1	949	c.897C>T	c.(895-897)GGC>GGT	p.G299G		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTGAAGGGCGCACTGAGGA	0.493												
NLRC3	197358	broad.mit.edu	37	16	3602259	3602259	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3602259C>T	uc010btn.2	-	10	2700	c.2289G>A	c.(2287-2289)GGG>GGA	p.G763G	NLRC3_uc010bto.1_Missense_Mutation_p.G28D	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	763	LRR 6.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CTCCCATGGGCCCGATGCTGT	0.507												
NLRC3	197358	broad.mit.edu	37	16	3614879	3614879	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3614879C>T	uc010btn.2	-	4	570	c.159G>A	c.(157-159)CCG>CCA	p.P53P		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	53					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGGGCCCCAGCGGGGCATCCG	0.672												
BTBD12	84464	broad.mit.edu	37	16	3640612	3640612	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3640612G>A	uc002cvp.2	-	12	3654	c.3027C>T	c.(3025-3027)GGC>GGT	p.G1009G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1009	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCTGACAGCGCCACTTTGTT	0.597								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
DNASE1	1773	broad.mit.edu	37	16	3707190	3707190	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3707190C>T	uc002cvr.2	+	7	2659	c.552C>T	c.(550-552)GAC>GAT	p.D184D		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	184					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCTGGTAGGACGTCATGTTGA	0.627								Direct_reversal_of_damage				
CREBBP	1387	broad.mit.edu	37	16	3788617	3788617	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3788617C>T	uc002cvv.2	-	26	4541	c.4337G>A	c.(4336-4338)CGC>CAC	p.R1446H	CREBBP_uc002cvw.2_Missense_Mutation_p.R1408H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446H(3)|p.R1446L(2)|p.R1446C(2)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACGGCTGTGCGGAGGCAACG	0.408			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4165068	4165068	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:4165068C>T	uc002cvx.2	-	2	915	c.376G>A	c.(376-378)GCC>ACC	p.A126T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	126	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGAAGGCAGGCGAAGCCGATG	0.617												
CIITA	4261	broad.mit.edu	37	16	11002909	11002909	+	Missense_Mutation	SNP	C	C	T	rs143801818	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:11002909C>T	uc002dai.3	+	12	2814	c.2681C>T	c.(2680-2682)GCG>GTG	p.A894V	CIITA_uc002daj.3_Missense_Mutation_p.A895V|CIITA_uc002dak.3_Missense_Mutation_p.A310V|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GACACGGTGGCGCTGTGGGAG	0.602			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
ERCC4	2072	broad.mit.edu	37	16	14016006	14016006	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:14016006C>T	uc002dce.2	+	2	335	c.326C>T	c.(325-327)GCG>GTG	p.A109V	ERCC4_uc010bva.2_Missense_Mutation_p.A109V	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	109					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GTTATATTTGCGACAAGTAGG	0.358			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ABCC1	4363	broad.mit.edu	37	16	16235070	16235070	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:16235070G>A	uc010bvi.2	+	31	4703	c.4528G>A	c.(4528-4530)GCC>ACC	p.A1510T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1451T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1454T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1445T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1395T|ABCC1_uc002del.3_Missense_Mutation_p.A1404T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1510	ABC transporter 2.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGAGTACGGCGCCCCATCGGA	0.597												
ABCC6	368	broad.mit.edu	37	16	16297376	16297376	+	Missense_Mutation	SNP	G	G	A	rs74315139		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:16297376G>A	uc002den.3	-	8	926	c.889C>T	c.(889-891)CGC>TGC	p.R297C	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R309C	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	297	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCAGTGGGCGCCACTGGCTC	0.562												
C16orf62	57020	broad.mit.edu	37	16	19639974	19639974	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:19639974T>A	uc002dgn.1	+	17	1411	c.1399T>A	c.(1399-1401)TCA>ACA	p.S467T	C16orf62_uc002dgo.1_Missense_Mutation_p.S400T|C16orf62_uc002dgp.1_Missense_Mutation_p.S216T	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	467						integral to membrane				ovary(1)	1						TCTTTTTCGATCACTGGGATT	0.383												
OTOA	146183	broad.mit.edu	37	16	21709120	21709120	+	Missense_Mutation	SNP	C	C	T	rs149668552		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:21709120C>T	uc002djh.2	+	9	765	c.764C>T	c.(763-765)GCG>GTG	p.A255V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A176V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	255					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		TGGGTCAGTGCGGAACACTTA	0.303												
VWA3A	146177	broad.mit.edu	37	16	22122251	22122251	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:22122251G>A	uc010vbq.1	+	8	721	c.625G>A	c.(625-627)GTC>ATC	p.V209I	VWA3A_uc010bxc.2_Missense_Mutation_p.V196I	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	209						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		GAAGCTGTTTGTCCTGTCCTT	0.577												
USP31	57478	broad.mit.edu	37	16	23080714	23080714	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:23080714A>G	uc002dll.2	-	16	2712	c.2712T>C	c.(2710-2712)GAT>GAC	p.D904D	USP31_uc002dlk.2_Silent_p.D176D|USP31_uc010vca.1_Silent_p.D207D|USP31_uc010bxm.2_Silent_p.D192D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	904	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		AGACCTTGTCATCTGCTGCCT	0.527												
HS3ST4	9951	broad.mit.edu	37	16	25704428	25704428	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:25704428G>A	uc002dof.2	+	1	1082	c.690G>A	c.(688-690)CCG>CCA	p.P230P		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	230	Substrate binding (By similarity).|Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GCGTAGAGCCGCACTTCTTCG	0.677												
GSG1L	146395	broad.mit.edu	37	16	27840132	27840132	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:27840132C>T	uc002doz.2	-	5	893	c.808G>A	c.(808-810)GCC>ACC	p.A270T	GSG1L_uc010bya.1_Missense_Mutation_p.A219T|GSG1L_uc010bxz.1_Missense_Mutation_p.A115T|GSG1L_uc002doy.2_Missense_Mutation_p.A115T	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	270						integral to membrane				ovary(1)	1						TACTTGATGGCCTCAGGGTCT	0.617												
XPO6	23214	broad.mit.edu	37	16	28167623	28167623	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:28167623G>A	uc002dpa.1	-	7	1370	c.869C>T	c.(868-870)GCG>GTG	p.A290V	XPO6_uc002dpb.1_Missense_Mutation_p.A276V|XPO6_uc010vcp.1_Missense_Mutation_p.A290V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTTAACTGACGCCATCTTTCT	0.567												
SPNS1	83985	broad.mit.edu	37	16	28993310	28993310	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:28993310C>T	uc010vdi.1	+	8	1038	c.898C>T	c.(898-900)CGT>TGT	p.R300C	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R227C|SPNS1_uc002dsa.2_Missense_Mutation_p.R300C|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Missense_Mutation_p.R232C|LAT_uc010vdj.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	300					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						ATTCCTGCTGCGTTCCCGCGT	0.637											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MVP	9961	broad.mit.edu	37	16	29847055	29847055	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:29847055C>T	uc002dui.2	+	6	692	c.608C>T	c.(607-609)GCG>GTG	p.A203V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.A203V|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	203	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						ACAGTAGGGGCGTACCTCCCA	0.622												
TAOK2	9344	broad.mit.edu	37	16	29998812	29998812	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:29998812G>T	uc002dva.1	+	16	4002	c.3219G>T	c.(3217-3219)CAG>CAT	p.Q1073H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.Q1080H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q900H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1073					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TGCGGCAGCAGGGCCCCCGGG	0.692												
ORAI3	93129	broad.mit.edu	37	16	30960725	30960725	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:30960725A>G	uc002eac.2	+	1	321	c.115A>G	c.(115-117)ATG>GTG	p.M39V		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	39						integral to membrane	protein binding				0						CCTGGACCTCATGGGGGCCAG	0.711												
BCKDK	10295	broad.mit.edu	37	16	31123326	31123326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:31123326G>A	uc002eaw.3	+	11	1388	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T	BCKDK_uc002eav.3_Missense_Mutation_p.A358T|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.A328T	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	358	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						GCATAGTGGCGCCCAGTCAGG	0.637												
ADCY7	113	broad.mit.edu	37	16	50346071	50346071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:50346071C>T	uc002egd.1	+	20	2841	c.2573C>T	c.(2572-2574)GCT>GTT	p.A858V		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	858	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 ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCCCACGTGGCTGCCCACTTT	0.592												
CYLD	1540	broad.mit.edu	37	16	50783604	50783604	+	Translation_Start_Site	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:50783604A>G	uc002egp.1	+	4	410	c.-5A>G	c.(-7--3)ATATC>ATGTC		CYLD_uc002egn.1_Translation_Start_Site|CYLD_uc002ego.2_Translation_Start_Site|CYLD_uc010cbs.1_Translation_Start_Site|CYLD_uc002egq.1_Translation_Start_Site|CYLD_uc002egr.1_Translation_Start_Site|CYLD_uc002egs.1_Translation_Start_Site	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD						cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TGAAGTTAATATCACAATGAG	0.363			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
MMP2	4313	broad.mit.edu	37	16	55513487	55513487	+	Silent	SNP	G	G	A	rs146220690	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:55513487G>A	uc002ehz.3	+	1	407	c.96G>A	c.(94-96)TCG>TCA	p.S32S	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	32					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCGCGCCGTCGCCCATCATCA	0.657												
SLC6A2	6530	broad.mit.edu	37	16	55705876	55705876	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:55705876G>A	uc002eif.2	+	4	544	c.433G>A	c.(433-435)GCC>ACC	p.A145T	SLC6A2_uc010ccd.2_Missense_Mutation_p.A145T|SLC6A2_uc002eig.2_Missense_Mutation_p.A145T|SLC6A2_uc002eih.2_Missense_Mutation_p.A145T|SLC6A2_uc002eii.2_Missense_Mutation_p.A40T	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	145	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CATCCTGATCGCCCTGTACGT	0.602												
FAM192A	80011	broad.mit.edu	37	16	57207746	57207746	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57207746A>G	uc010vhk.1	-	2	280	c.21T>C	c.(19-21)GGT>GGC	p.G7G	FAM192A_uc002ekz.3_Silent_p.G7G|FAM192A_uc002ekv.3_Intron|FAM192A_uc002ekw.3_Silent_p.G7G|FAM192A_uc002ekx.3_Silent_p.G7G|FAM192A_uc002eky.3_Silent_p.G7G|FAM192A_uc010ccx.2_Silent_p.G7G	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	7						nucleus					0						TAATAAGGTTACCATCATCCC	0.343												
CCDC135	84229	broad.mit.edu	37	16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57760043G>A	uc002emi.2	+	13	1911	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	CCDC135_uc002emj.2_Missense_Mutation_p.V608M|CCDC135_uc002emk.2_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	608						cytoplasm				central_nervous_system(1)	1						GGCAGAGCGCGTGTTTCTGGT	0.627												
CDH11	1009	broad.mit.edu	37	16	65016160	65016160	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:65016160C>G	uc002eoi.2	-	8	1478	c.1044G>C	c.(1042-1044)GAG>GAC	p.E348D	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E348D|CDH11_uc010vin.1_Missense_Mutation_p.E222D|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	348	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGTTGGCTGCCTCTACCTTCA	0.453			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
FAM65A	79567	broad.mit.edu	37	16	67574500	67574500	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:67574500C>T	uc010vjp.1	+	10	850	c.754C>T	c.(754-756)CGT>TGT	p.R252C	FAM65A_uc010cei.1_Missense_Mutation_p.R74C|FAM65A_uc002eth.2_Missense_Mutation_p.R232C|FAM65A_uc010cej.2_Missense_Mutation_p.R235C|FAM65A_uc002eti.1_Missense_Mutation_p.R195C|FAM65A_uc010vjq.1_Missense_Mutation_p.R246C|FAM65A_uc002etj.1_Missense_Mutation_p.R231C|FAM65A_uc002etk.2_Missense_Mutation_p.R231C	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	236						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAATATGGGCGTCAGCGCTG	0.537												
ESRP2	80004	broad.mit.edu	37	16	68269866	68269866	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68269866C>T	uc010cfa.1	-	1	271	c.83G>A	c.(82-84)GGA>GAA	p.G28E	ESRP2_uc002evq.1_Missense_Mutation_p.G28E	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	28					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GACCAGTGATCCgggccaggg	0.393												
PLA2G15	23659	broad.mit.edu	37	16	68293534	68293534	+	Silent	SNP	C	C	T	rs140573964	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68293534C>T	uc002evr.2	+	6	1296	c.1213C>T	c.(1213-1215)CTG>TTG	p.L405L	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.L311L|PLA2G15_uc010vlf.1_Silent_p.L205L|PLA2G15_uc002evs.2_Silent_p.L226L	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	405					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CCTGGCCTATCTGAAACGTGT	0.662												
SMPD3	55512	broad.mit.edu	37	16	68405290	68405290	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68405290G>A	uc002ewa.2	-	3	1217	c.795C>T	c.(793-795)GGC>GGT	p.G265G	SMPD3_uc010cfe.2_Silent_p.G265G|SMPD3_uc010vlh.1_Silent_p.G265G	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	265	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCCTGGCCTGGCCCCCAGGCA	0.711												
SF3B3	23450	broad.mit.edu	37	16	70602280	70602280	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:70602280G>A	uc002ezf.2	+	22	3258	c.3047G>A	c.(3046-3048)CGT>CAT	p.R1016H		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1016					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CGCTACAAGCGTAATGAAAAC	0.473												
VAC14	55697	broad.mit.edu	37	16	70820182	70820182	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:70820182T>G	uc002ezm.2	-	2	449	c.191A>C	c.(190-192)CAG>CCG	p.Q64P	VAC14_uc010cfw.2_Intron|VAC14_uc002ezn.2_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	64					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				GTGGGGGTGCTGAGACAGGGC	0.617												
CDYL2	124359	broad.mit.edu	37	16	80642064	80642064	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:80642064C>T	uc002ffs.2	-	6	1392	c.1287G>A	c.(1285-1287)TCG>TCA	p.S429S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	429						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						AGAAGACCTGCGACACCAGCC	0.622												
HSD17B2	3294	broad.mit.edu	37	16	82124512	82124512	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:82124512G>A	uc002fgv.2	+	4	842	c.670G>A	c.(670-672)GCC>ACC	p.A224T		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	224					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	CATAGGAGGGGCCCCAATGGA	0.338												
MBTPS1	8720	broad.mit.edu	37	16	84125426	84125426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:84125426C>T	uc002fhi.2	-	7	1376	c.874G>A	c.(874-876)GCC>ACC	p.A292T		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	292	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TAGTTGAAGGCGTCCAAAAAC	0.388												
CBFA2T3	863	broad.mit.edu	37	16	88945709	88945709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:88945709G>A	uc002fmm.1	-	11	1817	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	CBFA2T3_uc002fml.1_Missense_Mutation_p.T458M|CBFA2T3_uc002fmk.1_Missense_Mutation_p.T43M	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	544					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTTGATGACCGTCAGGGCGTC	0.711			T	RUNX1	AML							
ANKRD11	29123	broad.mit.edu	37	16	89349483	89349483	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89349483C>A	uc002fmx.1	-	9	3928	c.3467G>T	c.(3466-3468)CGG>CTG	p.R1156L	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1156L|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1156L|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1113L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATAGGCCTCCCGTCCTTCCTC	0.612												
ANKRD11	29123	broad.mit.edu	37	16	89351149	89351149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89351149G>A	uc002fmx.1	-	9	2262	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	ANKRD11_uc002fmy.1_Nonsense_Mutation_p.R601*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.R601*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.R558*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	601						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGGAGGCTCGCTTCCTGTGC	0.567												
C17orf97	400566	broad.mit.edu	37	17	263295	263295	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:263295G>A	uc002frh.2	+	3	707	c.691G>A	c.(691-693)GCC>ACC	p.A231T	C17orf97_uc010vpz.1_RNA	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	hypothetical protein LOC400566	231	4.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									ovary(1)	1						CGACCCCGACGCCCTCAAGGG	0.672												
MNT	4335	broad.mit.edu	37	17	2290499	2290499	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:2290499G>A	uc002fur.2	-	6	1697	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	482					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGTGGCAGGCGCCAGTTGCAC	0.677												
OR3A3	8392	broad.mit.edu	37	17	3324785	3324785	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:3324785C>T	uc010vrd.1	+	1	924	c.924C>T	c.(922-924)GGC>GGT	p.G308G		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGTTCAGGGCGCTCTGTGTC	0.483												
NUP88	4927	broad.mit.edu	37	17	5322707	5322707	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:5322707G>A	uc002gbo.1	-	1	290	c.264C>T	c.(262-264)GGC>GGT	p.G88G	NUP88_uc010vsx.1_Silent_p.G88G|NUP88_uc010cle.1_Silent_p.G88G|NUP88_uc010vsy.1_Silent_p.G88G|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	88					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CTTCGCCGCCGCCGCTGGGGC	0.602												
PITPNM3	83394	broad.mit.edu	37	17	6358773	6358773	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:6358773G>T	uc002gdd.3	-	20	2961	c.2810C>A	c.(2809-2811)GCC>GAC	p.A937D	PITPNM3_uc010cln.2_Missense_Mutation_p.A901D|PITPNM3_uc010clm.2_Missense_Mutation_p.A420D|PITPNM3_uc002gdc.3_Missense_Mutation_p.A528D	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	937					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTTGGGGTTGGCGGCGGGCGG	0.721												
PITPNM3	83394	broad.mit.edu	37	17	6371655	6371655	+	Missense_Mutation	SNP	G	G	A	rs150769456		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:6371655G>A	uc002gdd.3	-	14	1931	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	PITPNM3_uc010cln.2_Missense_Mutation_p.R558C|PITPNM3_uc010clm.2_Missense_Mutation_p.R77C|PITPNM3_uc002gdc.3_Missense_Mutation_p.R185C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	594	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTCTCATAGCGCATTACCTAG	0.627												
CCDC42	146849	broad.mit.edu	37	17	8638559	8638559	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:8638559G>A	uc002gln.2	-	6	955	c.728C>T	c.(727-729)GCG>GTG	p.A243V	CCDC42_uc002glo.2_Missense_Mutation_p.A169V	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	243										ovary(1)	1						CTGGATGTGCGCCCAGCGAGA	0.468												
MYH3	4621	broad.mit.edu	37	17	10543508	10543508	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:10543508G>T	uc002gmq.1	-	21	2564	c.2487C>A	c.(2485-2487)CCC>CCA	p.P829P		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	829					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GTTTCATCCAGGGCCAGTGCT	0.458												
CDRT4	284040	broad.mit.edu	37	17	15341239	15341239	+	Missense_Mutation	SNP	C	C	T	rs146969230	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:15341239C>T	uc002gop.1	-	4	588	c.307G>A	c.(307-309)GCT>ACT	p.A103T	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	103											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		ACCGAATAAGCGCCCCACATT	0.483												
TRPV2	51393	broad.mit.edu	37	17	16326788	16326788	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:16326788C>A	uc002gpy.2	+	5	998	c.631C>A	c.(631-633)CTA>ATA	p.L211I	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	211	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAGGTGAGCTACCCCTCTC	0.607												
CYTSB	92521	broad.mit.edu	37	17	20149379	20149379	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:20149379G>A	uc002gwq.2	+	8	2637	c.2492G>A	c.(2491-2493)CGC>CAC	p.R831H	CYTSB_uc002gws.2_Missense_Mutation_p.R831H|CYTSB_uc002gwv.2_Missense_Mutation_p.R750H|CYTSB_uc010vzf.1_Missense_Mutation_p.R171H|CYTSB_uc002gww.2_Missense_Mutation_p.R607H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	831				R -> G (in Ref. 2; AAW30000/AAW30002).		nucleus					0						GACTTGGGACGCCCAGGTATT	0.473												
SEBOX	645832	broad.mit.edu	37	17	26691501	26691501	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:26691501C>T	uc010wai.1	-	3	454	c.440G>A	c.(439-441)CGC>CAC	p.R147H	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.R146H|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	147					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CACTGAGGTGCGCTGAGGTGT	0.637												
VTN	7448	broad.mit.edu	37	17	26696033	26696033	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:26696033C>T	uc002hbc.2	-	5	835	c.686G>A	c.(685-687)CGC>CAC	p.R229H	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	229	Hemopexin-like 2.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ATCCTCAAAGCGCCAGTACTG	0.597												
SUPT6H	6830	broad.mit.edu	37	17	27024691	27024691	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27024691C>A	uc002hby.2	+	31	4353	c.4263C>A	c.(4261-4263)TCC>TCA	p.S1421S	SUPT6H_uc010crt.2_Silent_p.S1421S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1421	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCATGGCATCCTTTGCCCGGG	0.522												
NUFIP2	57532	broad.mit.edu	37	17	27614007	27614007	+	Silent	SNP	G	G	C	rs141446231		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27614007G>C	uc002hdy.3	-	2	1094	c.1005C>G	c.(1003-1005)ACC>ACG	p.T335T	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	335						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTTTAAATAGGGTCCACGAGT	0.418												
TP53I13	90313	broad.mit.edu	37	17	27899268	27899268	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27899268C>T	uc002hee.2	+	6	660	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	208	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		GCGGAGGCTGCGGGCTGCCCT	0.662												
GIT1	28964	broad.mit.edu	37	17	27903134	27903134	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27903134C>T	uc002hef.2	-	15	1841	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T	GIT1_uc002heg.2_Missense_Mutation_p.A552T|GIT1_uc010wbg.1_Missense_Mutation_p.A552T|GIT1_uc010csb.1_Missense_Mutation_p.A543T	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	543					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GAATAGATGGCGTCGTCCTCT	0.612												
SSH2	85464	broad.mit.edu	37	17	27963291	27963291	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27963291A>G	uc002heo.1	-	14	1876	c.1876T>C	c.(1876-1878)TCC>CCC	p.S626P	SSH2_uc010wbh.1_Missense_Mutation_p.S653P	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	626					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						GGATCAGGGGACATGGGGGGG	0.473												
EFCAB5	374786	broad.mit.edu	37	17	28419105	28419105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28419105C>T	uc002het.2	+	21	4346	c.4154C>T	c.(4153-4155)GCG>GTG	p.A1385V	EFCAB5_uc010cse.2_Missense_Mutation_p.A1140V|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1385							calcium ion binding			ovary(1)|skin(1)	2						ATCCTGAAGGCGGTTATCTTG	0.378												
NF1	4763	broad.mit.edu	37	17	29654702	29654702	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:29654702A>G	uc002hgg.2	+	38	5787	c.5454A>G	c.(5452-5454)GAA>GAG	p.E1818E	NF1_uc002hgh.2_Silent_p.E1797E|NF1_uc002hgi.1_Silent_p.E830E|NF1_uc010cso.2_Silent_p.E6E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1818					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.H1814fs*43(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAGTGTGAAGCCATTGTCC	0.512			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
ACCN1	40	broad.mit.edu	37	17	31343004	31343004	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:31343004G>A	uc002hhu.2	-	9	1696	c.1422C>T	c.(1420-1422)AGC>AGT	p.S474S	ACCN1_uc002hht.2_Silent_p.S525S	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	474	Cytoplasmic (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	TCTCATCGTGGCTCCCTTCGT	0.542												
ACCN1	40	broad.mit.edu	37	17	31348260	31348260	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:31348260G>A	uc002hhu.2	-	7	1539	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V	ACCN1_uc002hht.2_Missense_Mutation_p.A473V	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	422	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	AACTTCATACGCCTTCTTCTG	0.403												
LIG3	3980	broad.mit.edu	37	17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:33319550G>A	uc002hik.1	+	8	1402	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	LIG3_uc002hij.2_Missense_Mutation_p.A432T|LIG3_uc010cth.1_Missense_Mutation_p.A441T	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	432					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542								Other_BER_factors				
GGNBP2	79893	broad.mit.edu	37	17	34935676	34935676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:34935676C>T	uc002hnb.2	+	8	1096	c.847C>T	c.(847-849)CGA>TGA	p.R283*	GGNBP2_uc002hna.2_Nonsense_Mutation_p.R283*|GGNBP2_uc002hnc.1_Nonsense_Mutation_p.R112*	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	283					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTTTTATAGGCGAAGAGAAAG	0.378												
DDX52	11056	broad.mit.edu	37	17	35992179	35992179	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:35992179C>T	uc002hoi.1	-	4	605	c.567G>A	c.(565-567)ACG>ACA	p.T189T	DDX52_uc002hoh.1_Silent_p.T81T|DDX52_uc002hoj.1_Silent_p.T97T	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	189	Q motif.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGATTGGCGTAGGCATTT	0.343												
SOCS7	30837	broad.mit.edu	37	17	36551660	36551660	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:36551660G>A	uc002hqa.2	+	8	1711	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	SOCS7_uc010cvl.2_Missense_Mutation_p.V496I|SOCS7_uc002hqb.2_Intron	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	530	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					ACGACAGCTCGTCAGGATAGA	0.522												
SRCIN1	80725	broad.mit.edu	37	17	36708278	36708278	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:36708278G>A	uc002hqd.2	-	14	2796	c.2571C>T	c.(2569-2571)AGC>AGT	p.S857S	SRCIN1_uc002hqf.1_Silent_p.S729S|SRCIN1_uc002hqe.2_Silent_p.S711S|SRCIN1_uc002hqg.2_Silent_p.S163S	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	729					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CGAAGTCCACGCTCTTGTTGA	0.622												
CACNB1	782	broad.mit.edu	37	17	37351142	37351142	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:37351142G>A	uc002hrm.1	-	2	319	c.166C>T	c.(166-168)CGC>TGC	p.R56C	CACNB1_uc002hrl.1_5'Flank|CACNB1_uc002hrn.2_Missense_Mutation_p.R56C|CACNB1_uc002hro.2_Missense_Mutation_p.R56C|CACNB1_uc002hrp.1_Missense_Mutation_p.R56C|CACNB1_uc010web.1_5'Flank	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	56					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATTACCTGGCGGACAAAGCTG	0.587												
PNMT	5409	broad.mit.edu	37	17	37826571	37826571	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:37826571G>A	uc002hsi.1	+	3	1000	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	260					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATCATGCCTGCCCACCTTCA	0.632												
ZPBP2	124626	broad.mit.edu	37	17	38024549	38024549	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38024549G>T	uc002hte.2	+	1	95	c.-58G>T	c.(-60--56)CAGGG>CATGG		ZPBP2_uc002htf.2_Translation_Start_Site	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2						binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTGGGCCAGGGCTGAGGTA	0.697												
NR1D1	9572	broad.mit.edu	37	17	38252038	38252038	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38252038C>T	uc002htz.1	-	5	1533	c.907G>A	c.(907-909)GCC>ACC	p.A303T	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	303					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TTGTCATGGGCGTAGGTGAAG	0.602												
CCR7	1236	broad.mit.edu	37	17	38711227	38711227	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38711227T>C	uc002huw.2	-	3	967	c.904A>G	c.(904-906)AAG>GAG	p.K302E		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	302	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				TTGAGTTGCTTACTGAGCTCA	0.572												
KRT24	192666	broad.mit.edu	37	17	38859491	38859491	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38859491G>A	uc002hvd.2	-	1	512	c.455C>T	c.(454-456)GCC>GTC	p.A152V		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	152	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TAGGTAATTGGCCAAGCGGTC	0.517												
KRT27	342574	broad.mit.edu	37	17	38938374	38938374	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38938374T>C	uc002hvg.2	-	1	413	c.372A>G	c.(370-372)GGA>GGG	p.G124G		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	124	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				AAGAACCAGGTCCAAATTTCT	0.493												
KRT28	162605	broad.mit.edu	37	17	38953476	38953476	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38953476C>T	uc002hvh.1	-	4	814	c.748G>A	c.(748-750)GCC>ACC	p.A250T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	250	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				ACCCCCGGGGCCGCGTTCATC	0.597												
JUP	3728	broad.mit.edu	37	17	39923794	39923794	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:39923794G>A	uc002hxq.2	-	5	1023	c.746C>T	c.(745-747)ACG>ATG	p.T249M	JUP_uc010wfs.1_Missense_Mutation_p.T249M|JUP_uc002hxr.2_Missense_Mutation_p.T249M|JUP_uc002hxs.2_Missense_Mutation_p.T249M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	249	ARM 2.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTTGTGCAGCGTGGTGATGGC	0.632												
KLHL11	55175	broad.mit.edu	37	17	40010749	40010749	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40010749C>T	uc002hyf.1	-	2	1376	c.1370G>A	c.(1369-1371)AGC>AAC	p.S457N		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	457	Kelch 3.					extracellular region					0		Breast(137;0.00156)				TCCTCCAATGCTATAGAGCTT	0.383												
TTC25	83538	broad.mit.edu	37	17	40094982	40094982	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40094982T>C	uc002hyj.3	+	6	887	c.798T>C	c.(796-798)CGT>CGC	p.R266R	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	266						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACAAACGCCGTCCCTCACAGA	0.562												
CNP	1267	broad.mit.edu	37	17	40120221	40120221	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40120221C>A	uc002hyl.1	+	2	283	c.139C>A	c.(139-141)CTA>ATA	p.L47I	CNP_uc002hyk.1_Missense_Mutation_p.L47I|CNP_uc010wfz.1_Missense_Mutation_p.L47I|CNP_uc002hym.1_Missense_Mutation_p.L27I|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	47					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)		GGCCACGCTGCTAGAGTGCAA	0.582												
DHX58	79132	broad.mit.edu	37	17	40255695	40255695	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40255695G>T	uc002hyw.3	-	12	1908	c.1685C>A	c.(1684-1686)GCT>GAT	p.A562D	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.A555D	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	562					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGGCCCACAGCCACCATGCA	0.637												
STAT5B	6777	broad.mit.edu	37	17	40369449	40369449	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40369449G>A	uc002hzh.2	-	10	1372	c.1203C>T	c.(1201-1203)TGC>TGT	p.C401C		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	401					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTCCATGACGCAGCAGTTGT	0.488												
ETV4	2118	broad.mit.edu	37	17	41611239	41611239	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:41611239C>T	uc002idw.2	-	6	499	c.371G>A	c.(370-372)TGC>TAC	p.C124Y	ETV4_uc010wih.1_Missense_Mutation_p.C124Y|ETV4_uc010czh.2_Missense_Mutation_p.C123Y|ETV4_uc010wii.1_Missense_Mutation_p.C85Y|ETV4_uc002idx.2_Missense_Mutation_p.C124Y|ETV4_uc010wij.1_Missense_Mutation_p.C85Y|ETV4_uc002idy.1_Missense_Mutation_p.C85Y	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	124					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGAGTAAAGGCACTGCTCGCC	0.657			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma							
ITGA2B	3674	broad.mit.edu	37	17	42461008	42461008	+	Nonsense_Mutation	SNP	C	C	A	rs137852910		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:42461008C>A	uc002igt.1	-	12	1095	c.1063G>T	c.(1063-1065)GAA>TAA	p.E355*	ITGA2B_uc002igu.1_5'Flank	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	355	FG-GAP 5.|Extracellular (Potential).		E -> K (in GT; type I; impairs surface expression of alpha-IIb/beta-3).		axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CGCCCCACTTCGGCCAGTTTT	0.632												
PLCD3	113026	broad.mit.edu	37	17	43190500	43190500	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43190500C>T	uc002iib.2	-	14	2235	c.2121G>A	c.(2119-2121)GTG>GTA	p.V707V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	707	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CATTGTTGAGCACGTAGTCAG	0.642												
CRHR1	1394	broad.mit.edu	37	17	43907506	43907506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43907506G>A	uc010dap.2	+	7	833	c.568G>A	c.(568-570)GCC>ACC	p.A190T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A60T|CRHR1_uc002ijm.2_Missense_Mutation_p.A161T|CRHR1_uc002ijn.2_Missense_Mutation_p.A121T|CRHR1_uc010dar.2_Missense_Mutation_p.A161T|CRHR1_uc010dao.2_Missense_Mutation_p.A60T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTCATCTCCGCCTTCATCCT	0.627												
CRHR1	1394	broad.mit.edu	37	17	43907524	43907524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43907524G>A	uc010dap.2	+	7	851	c.586G>A	c.(586-588)GCC>ACC	p.A196T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A66T|CRHR1_uc002ijm.2_Missense_Mutation_p.A167T|CRHR1_uc002ijn.2_Missense_Mutation_p.A127T|CRHR1_uc010dar.2_Missense_Mutation_p.A167T|CRHR1_uc010dao.2_Missense_Mutation_p.A66T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	196	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCGCAACGCCACCTGGTT	0.627												
DLX3	1747	broad.mit.edu	37	17	48069204	48069204	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48069204G>A	uc002ipy.2	-	3	767	c.541C>T	c.(541-543)CGT>TGT	p.R181C		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	181	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AACTTGGAACGGCGGTTCTGG	0.522												
ITGA3	3675	broad.mit.edu	37	17	48148760	48148760	+	Silent	SNP	C	C	T	rs145459787	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48148760C>T	uc010dbl.2	+	6	1301	c.837C>T	c.(835-837)GGC>GGT	p.G279G	ITGA3_uc010dbm.2_Silent_p.G279G	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	279	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GACATATGGGCGCGGTGTTCT	0.622												
PPP1R9B	84687	broad.mit.edu	37	17	48218655	48218655	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48218655C>A	uc002iqh.3	-	6	1712	c.1709G>T	c.(1708-1710)CGG>CTG	p.R570L		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	568	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						CTTGGTGTTCCGGAGCACAGA	0.632												
COL1A1	1277	broad.mit.edu	37	17	48268238	48268238	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48268238G>A	uc002iqm.2	-	33	2409	c.2283C>T	c.(2281-2283)GGC>GGT	p.G761G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	761	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GACCACGGACGCCATCTTTGC	0.587			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
MRPL27	51264	broad.mit.edu	37	17	48447421	48447421	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48447421C>T	uc002iqq.2	-	3	243	c.212G>A	c.(211-213)CGC>CAC	p.R71H	MRPL27_uc002iqr.2_Missense_Mutation_p.R71H	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	71					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GCGGAAATGGCGCTGTGTTGC	0.512												
DGKE	8526	broad.mit.edu	37	17	54912364	54912364	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:54912364C>A	uc002iur.2	+	2	388	c.208C>A	c.(208-210)CAG>AAG	p.Q70K	DGKE_uc002ius.1_Missense_Mutation_p.Q70K|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	70	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CCTGTTCAGCCAGCCCACCTA	0.682												
C17orf71	55181	broad.mit.edu	37	17	57290958	57290958	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:57290958C>A	uc002ixi.2	+	3	2816	c.2774C>A	c.(2773-2775)CCT>CAT	p.P925H		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	925					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)					ATACTAATGCCTCAGGTAAGA	0.378												
CA4	762	broad.mit.edu	37	17	58233957	58233957	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:58233957G>A	uc002iym.3	+	3	243	c.149G>A	c.(148-150)CGC>CAC	p.R50H	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	50					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CAGAAGGACCGCCAGTCCCCC	0.572												
USP32	84669	broad.mit.edu	37	17	58299799	58299799	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:58299799A>G	uc002iyo.1	-	15	2006	c.1720T>C	c.(1720-1722)TAT>CAT	p.Y574H	USP32_uc002iyn.1_Missense_Mutation_p.Y244H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	574	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTGCTCCATACCAGTGATAA	0.423												
DDX42	11325	broad.mit.edu	37	17	61895287	61895287	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:61895287C>A	uc002jbu.2	+	19	2603	c.2346C>A	c.(2344-2346)GCC>GCA	p.A782A	DDX42_uc002jbv.2_Silent_p.A782A|DDX42_uc002jbx.2_Silent_p.A518A|DDX42_uc002jby.2_Silent_p.A328A|DDX42_uc010wps.1_Silent_p.A150A	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	782	Gly-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						ACCCGTCTGCCGGAGCCCAAG	0.577												
TEX2	55852	broad.mit.edu	37	17	62291475	62291475	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:62291475C>T	uc002jec.2	-	2	276	c.103G>A	c.(103-105)GCC>ACC	p.A35T	TEX2_uc002jed.2_Missense_Mutation_p.A35T|TEX2_uc002jee.2_Missense_Mutation_p.A35T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	35					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGTGAATGGCGATGGTATCT	0.468												
CCDC46	201134	broad.mit.edu	37	17	63685297	63685297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:63685297G>A	uc002jfl.2	-	24	2866	c.2647C>T	c.(2647-2649)CGA>TGA	p.R883*	CCDC46_uc010deo.2_Nonsense_Mutation_p.R554*|CCDC46_uc002jfm.2_Nonsense_Mutation_p.R883*|CCDC46_uc010dep.2_Nonsense_Mutation_p.R841*|CCDC46_uc002jfk.2_Nonsense_Mutation_p.R139*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	883	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TCTGCACATCGCACCTGATTA	0.338												
CCDC46	201134	broad.mit.edu	37	17	64049870	64049870	+	Missense_Mutation	SNP	G	G	A	rs147020220	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64049870G>A	uc002jfl.2	-	12	1421	c.1202C>T	c.(1201-1203)GCG>GTG	p.A401V	CCDC46_uc010deo.2_Missense_Mutation_p.A143V|CCDC46_uc002jfm.2_Missense_Mutation_p.A401V|CCDC46_uc010dep.2_Missense_Mutation_p.A359V	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	401	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTGTGTTTGCGCCATGTATTC	0.398												
PRKCA	5578	broad.mit.edu	37	17	64770155	64770155	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64770155C>T	uc002jfp.1	+	14	1619	c.1575C>T	c.(1573-1575)GGC>GGT	p.G525G	PRKCA_uc002jfo.1_Silent_p.G396G	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	525	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGGCCTATGGCGTCCTGTTGT	0.428												
CACNG5	27091	broad.mit.edu	37	17	64873620	64873620	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64873620G>A	uc010wqi.1	+	2	407	c.170G>A	c.(169-171)GGC>GAC	p.G57D	CACNG5_uc002jfr.2_Missense_Mutation_p.G57D|CACNG5_uc010wqj.1_Missense_Mutation_p.G57D	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	57					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGCACTCAGGCCTCTGGCGG	0.627												
CACNG5	27091	broad.mit.edu	37	17	64875104	64875104	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64875104C>T	uc010wqi.1	+	3	448	c.211C>T	c.(211-213)CGT>TGT	p.R71C	CACNG5_uc002jfr.2_Missense_Mutation_p.R71C|CACNG5_uc010wqj.1_Missense_Mutation_p.R71C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	71					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGAGCGGGGGCGTTGCTTCAC	0.483												
BPTF	2186	broad.mit.edu	37	17	65928070	65928070	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:65928070G>C	uc002jgf.2	+	18	6255	c.6194G>C	c.(6193-6195)AGA>ACA	p.R2065T	BPTF_uc002jge.2_Missense_Mutation_p.R2191T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2191					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCGTGATTAGAACACCACTC	0.373												
ARSG	22901	broad.mit.edu	37	17	66391272	66391272	+	Missense_Mutation	SNP	C	C	T	rs150072981		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:66391272C>T	uc002jhc.2	+	10	1946	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	ARSG_uc002jhb.1_Missense_Mutation_p.R220W	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	384					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTCAAGGACGGCGCTTTGA	0.567												
CD300LB	124599	broad.mit.edu	37	17	72521981	72521981	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:72521981C>A	uc002jkx.2	-	2	400	c.387G>T	c.(385-387)GAG>GAT	p.E129D	CD300LB_uc010wqz.1_Missense_Mutation_p.E129D	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	92	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GCCTGAGCCCCTCCATGGTCA	0.512												
SLC25A19	60386	broad.mit.edu	37	17	73274291	73274291	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73274291G>A	uc002jns.3	-	4	1495	c.585C>T	c.(583-585)TGC>TGT	p.C195C	SLC25A19_uc010dge.2_Silent_p.C138C|SLC25A19_uc002jnv.3_Silent_p.C195C|SLC25A19_uc002jnu.3_Silent_p.C195C|SLC25A19_uc002jnw.3_Silent_p.C195C|SLC25A19_uc002jnt.3_Silent_p.C195C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	195	Solcar 2.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGGAGCTGTAGCAAGAGAACT	0.582												
ITGB4	3691	broad.mit.edu	37	17	73727940	73727940	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73727940G>A	uc002jpg.2	+	11	1450	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	ITGB4_uc002jph.2_Silent_p.T421T|ITGB4_uc010dgo.2_Silent_p.T421T|ITGB4_uc002jpi.3_Silent_p.T421T|ITGB4_uc010dgp.1_Silent_p.T421T|ITGB4_uc002jpj.2_Silent_p.T421T|ITGB4_uc010wsh.1_5'UTR	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	421	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGATGGGACGCACGTGTGCC	0.637												
EVPL	2125	broad.mit.edu	37	17	74013833	74013833	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74013833A>G	uc002jqi.2	-	14	1925	c.1697T>C	c.(1696-1698)ATC>ACC	p.I566T	EVPL_uc010wss.1_Missense_Mutation_p.I588T|EVPL_uc010wst.1_Missense_Mutation_p.I36T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	566	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ATGGCTGTGGATGCGGCCCTC	0.687												
SRP68	6730	broad.mit.edu	37	17	74060139	74060139	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74060139C>T	uc002jqk.1	-	4	514	c.479G>A	c.(478-480)CGC>CAC	p.R160H	SRP68_uc010wsu.1_Missense_Mutation_p.R59H|SRP68_uc002jql.1_Missense_Mutation_p.R122H	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CACGGCTTTGCGTAGGCGAGA	0.502												
ZACN	353174	broad.mit.edu	37	17	74077461	74077461	+	Missense_Mutation	SNP	T	T	C	rs147360559	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74077461T>C	uc002jqn.2	+	6	730	c.647T>C	c.(646-648)CTG>CCG	p.L216P	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	216	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						CCCCAGCAGCTGGTGCCCTGC	0.597												
UBE2O	63893	broad.mit.edu	37	17	74394386	74394386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74394386C>T	uc002jrm.3	-	12	2040	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	UBE2O_uc002jrn.3_Missense_Mutation_p.V659I|UBE2O_uc002jrl.3_Missense_Mutation_p.V262I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	659							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGCGGATGACGATGTCAGTT	0.522											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JMJD6	23210	broad.mit.edu	37	17	74721697	74721697	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74721697T>C	uc002jso.2	-	2	694	c.370A>G	c.(370-372)ACT>GCT	p.T124A	JMJD6_uc002jsn.1_Missense_Mutation_p.T124A|JMJD6_uc010dgz.2_Missense_Mutation_p.T124A|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	124					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						TCATCTCGAGTGCTCTCCATG	0.413												
MGAT5B	146664	broad.mit.edu	37	17	74928844	74928844	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74928844C>T	uc002jti.2	+	10	1545	c.1442C>T	c.(1441-1443)GCG>GTG	p.A481V	MGAT5B_uc002jth.2_Missense_Mutation_p.A470V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	470	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GGCAAGGAGGCGAGCATCTGG	0.667												
MGAT5B	146664	broad.mit.edu	37	17	74936520	74936520	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74936520G>A	uc002jti.2	+	12	1751	c.1648G>A	c.(1648-1650)GCC>ACC	p.A550T	MGAT5B_uc002jth.2_Missense_Mutation_p.A539T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	541	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						CGAGGGCCCCGCCCCCCTGGA	0.657												
ENGASE	64772	broad.mit.edu	37	17	77079993	77079993	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:77079993C>T	uc002jwv.2	+	10	1410	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	ENGASE_uc002jww.2_Missense_Mutation_p.R174W	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	468						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CCTGCTCGTCCGGGGTGTGAT	0.652												
ENPP7	339221	broad.mit.edu	37	17	77708929	77708929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:77708929G>A	uc002jxa.2	+	3	507	c.487G>A	c.(487-489)GCA>ACA	p.A163T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	163					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGAAGGCATCGCACACAACTA	0.587												
CARD14	79092	broad.mit.edu	37	17	78169019	78169019	+	Silent	SNP	G	G	A	rs146882682		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:78169019G>A	uc002jxw.1	+	10	1581	c.1386G>A	c.(1384-1386)ACG>ACA	p.T462T	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.T462T|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.T225T|CARD14_uc010dhu.1_Silent_p.T260T	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	462					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGAGTGCCACGTCCAGCCGCG	0.672												
CARD14	79092	broad.mit.edu	37	17	78169064	78169064	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:78169064G>A	uc002jxw.1	+	10	1626	c.1431G>A	c.(1429-1431)GCG>GCA	p.A477A	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.A477A|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.A240A|CARD14_uc010dhu.1_Silent_p.A275A	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	477					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCCCCGCGCCCCCCAGCC	0.657												
RAC3	5881	broad.mit.edu	37	17	79991327	79991327	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:79991327G>T	uc002kdf.2	+	5	406	c.300G>T	c.(298-300)GAG>GAT	p.E100D		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	100					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGTACCCGGAGGTGCGGCACC	0.667												
NARF	26502	broad.mit.edu	37	17	80426665	80426665	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:80426665T>C	uc002kfg.3	+	4	418	c.278T>C	c.(277-279)GTG>GCG	p.V93A	NARF_uc002kff.3_Missense_Mutation_p.V34A|NARF_uc010wvo.1_Missense_Mutation_p.V93A|NARF_uc010wvp.1_5'UTR|NARF_uc010dit.2_Missense_Mutation_p.V93A|NARF_uc002kfj.3_Missense_Mutation_p.V45A|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.V93A|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	93						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGCACAAAGTGCTGGTAGTG	0.378												
USP14	9097	broad.mit.edu	37	18	196733	196733	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:196733C>T	uc002kkf.1	+	7	776	c.560C>T	c.(559-561)GCC>GTC	p.A187V	USP14_uc002kkg.1_Missense_Mutation_p.A152V|USP14_uc010wyr.1_Missense_Mutation_p.A176V	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	187					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCACAGTTTGCCGAGAAAGGT	0.373												
CEP192	55125	broad.mit.edu	37	18	13049657	13049657	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:13049657G>A	uc010xac.1	+	16	2947	c.2867G>A	c.(2866-2868)CGC>CAC	p.R956H	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R481H|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.R697H	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	956										ovary(4)|pancreas(1)	5						GAAAACCATCGCATAGTCTCA	0.363												
NPC1	4864	broad.mit.edu	37	18	21119843	21119843	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:21119843G>A	uc002kum.3	-	18	3001	c.2727C>T	c.(2725-2727)TGC>TGT	p.C909C	NPC1_uc010xaz.1_Silent_p.C642C|NPC1_uc010xba.1_Silent_p.C754C	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	909					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCATGCCGCCGCACACCATGT	0.537												
LAMA3	3909	broad.mit.edu	37	18	21441734	21441734	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:21441734C>T	uc002kuq.2	+	35	4633	c.4547C>T	c.(4546-4548)GCG>GTG	p.A1516V	LAMA3_uc002kur.2_Missense_Mutation_p.A1516V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1516	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCACAGCGCGTCCTGGGTC	0.592												
ZNF521	25925	broad.mit.edu	37	18	22805650	22805650	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:22805650C>A	uc002kvk.2	-	4	2479	c.2232G>T	c.(2230-2232)AAG>AAT	p.K744N	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K744N|ZNF521_uc002kvl.2_Missense_Mutation_p.K524N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	744	C2H2-type 17.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGTTACTGTGCTTCACAGCCA	0.478			T	PAX5	ALL							
ZNF521	25925	broad.mit.edu	37	18	22807108	22807108	+	Silent	SNP	C	C	T	rs34187076		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:22807108C>T	uc002kvk.2	-	4	1021	c.774G>A	c.(772-774)CCG>CCA	p.P258P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.P258P|ZNF521_uc002kvl.2_Silent_p.P38P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	258	C2H2-type 6.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGGTCTTCCGGGAAGTCAA	0.557			T	PAX5	ALL							
DSC1	1823	broad.mit.edu	37	18	28728576	28728576	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:28728576G>T	uc002kwn.2	-	6	919	c.657C>A	c.(655-657)GGC>GGA	p.G219G	DSC1_uc002kwm.2_Silent_p.G219G	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	219	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTGGTGCATAGCCATCTGCAG	0.383												
DSG3	1830	broad.mit.edu	37	18	29038476	29038476	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:29038476G>A	uc002kws.2	+	4	394	c.285G>A	c.(283-285)CCG>CCA	p.P95P		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	95	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGATCAGCCGCCTTTTGGAA	0.443												
DSG2	1829	broad.mit.edu	37	18	29121196	29121196	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:29121196C>T	uc002kwu.3	+	13	2108	c.1920C>T	c.(1918-1920)GGC>GGT	p.G640G		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	640	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCGGAAAGGGCGCCAAAGGCT	0.433												
ASXL3	80816	broad.mit.edu	37	18	31323069	31323069	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:31323069C>T	uc010dmg.1	+	12	3312	c.3257C>T	c.(3256-3258)GCC>GTC	p.A1086V	ASXL3_uc002kxq.2_Missense_Mutation_p.A793V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1086					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GTCTCTGGAGCCATGGGAAGT	0.582												
MOCOS	55034	broad.mit.edu	37	18	33779654	33779654	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:33779654C>T	uc002kzq.3	+	4	331	c.308C>T	c.(307-309)GCG>GTG	p.A103V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	103					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AGAATCCTGGCGCACTTCCAC	0.542												
FHOD3	80206	broad.mit.edu	37	18	34310607	34310607	+	Splice_Site	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:34310607A>C	uc002kzt.1	+	16	2939	c.2842_splice	c.e16-2	p.K948_splice	FHOD3_uc002kzs.1_Splice_Site_p.K965_splice|FHOD3_uc010dmz.1_Splice_Site_p.K680_splice|FHOD3_uc010dnb.1_5'Flank	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						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)				TTTATCACTAAGAAAACTGCT	0.398												
SETBP1	26040	broad.mit.edu	37	18	42281510	42281510	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:42281510C>T	uc010dni.2	+	2	495	c.199C>T	c.(199-201)CGG>TGG	p.R67W	SETBP1_uc002lay.2_Missense_Mutation_p.R67W	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	67						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGCTCAGGGCGGGATGTGGA	0.562									Schinzel-Giedion_syndrome			
TCEB3B	51224	broad.mit.edu	37	18	44560944	44560944	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:44560944C>T	uc002lcr.1	-	1	1045	c.692G>A	c.(691-693)CGC>CAC	p.R231H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	231					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTTTTCCTGGCGAGACGATTT	0.612												
CCDC68	80323	broad.mit.edu	37	18	52585165	52585165	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:52585165C>A	uc002lfs.2	-	10	1024	c.852G>T	c.(850-852)AAG>AAT	p.K284N	CCDC68_uc002lft.2_Missense_Mutation_p.K284N	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	284	Potential.									skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTATGTTAACCTTTTCTCTGA	0.244												
TCF4	6925	broad.mit.edu	37	18	52896180	52896180	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:52896180G>A	uc002lfz.2	-	18	2377	c.1765C>T	c.(1765-1767)CGC>TGC	p.R589C	TCF4_uc002lfw.3_Missense_Mutation_p.R433C|TCF4_uc010xdu.1_Missense_Mutation_p.R459C|TCF4_uc010xdv.1_Missense_Mutation_p.R459C|TCF4_uc002lfx.2_Missense_Mutation_p.R522C|TCF4_uc010xdw.1_Missense_Mutation_p.R459C|TCF4_uc002lfy.2_Missense_Mutation_p.R547C|TCF4_uc010xdx.1_Missense_Mutation_p.R565C|TCF4_uc010dph.1_Missense_Mutation_p.R593C|TCF4_uc010xdy.1_Missense_Mutation_p.R569C|TCF4_uc002lga.2_Missense_Mutation_p.R695C|TCF4_uc002lgb.1_Missense_Mutation_p.R429C|TCF4_uc010dpi.2_Missense_Mutation_p.R599C|TCF4_uc002lfv.2_Missense_Mutation_p.R372C	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	589	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGCACCATGCGGCCGAGCTCT	0.612												
FECH	2235	broad.mit.edu	37	18	55222129	55222129	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:55222129A>C	uc002lgq.3	-	8	977	c.860T>G	c.(859-861)GTC>GGC	p.V287G	FECH_uc002lgp.3_Missense_Mutation_p.V293G|FECH_uc002lgr.3_Missense_Mutation_p.V145G	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	287					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CCTTTCCATGACTTTTTGGAC	0.532												
FECH	2235	broad.mit.edu	37	18	55238753	55238753	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:55238753C>T	uc002lgq.3	-	4	451	c.334G>A	c.(334-336)GCC>ACC	p.A112T	FECH_uc002lgp.3_Missense_Mutation_p.A118T|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	112					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CGGCGTTTGGCGATGAATGGT	0.448												
KIAA1468	57614	broad.mit.edu	37	18	59949640	59949640	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:59949640A>T	uc002lil.2	+	25	3431	c.3216A>T	c.(3214-3216)AGA>AGT	p.R1072S	KIAA1468_uc010xel.1_Missense_Mutation_p.R1072S|KIAA1468_uc002lim.2_Missense_Mutation_p.R750S	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1072							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				CATTTGGTAGAGTTGGCCCTA	0.408												
BCL2	596	broad.mit.edu	37	18	60985894	60985894	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:60985894C>T	uc002lit.1	-	2	499	c.6G>A	c.(4-6)GCG>GCA	p.A2A	BCL2_uc002liu.1_Silent_p.A2A|BCL2_uc002liv.1_Silent_p.A2A	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	2					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCCCAGCGTGCGCCATCCTTC	0.572			T	IGH@	NHL|CLL							
SERPINB2	5055	broad.mit.edu	37	18	61562569	61562569	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:61562569G>A	uc010xeu.1	+	4	573	c.240G>A	c.(238-240)GGG>GGA	p.G80G	SERPINB2_uc002ljo.2_Silent_p.G80G|SERPINB2_uc010dqh.2_Silent_p.G10G|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	80					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCAGCTGTGGGTTCATGCAGC	0.428												
ZNF407	55628	broad.mit.edu	37	18	72345280	72345280	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:72345280T>G	uc002llw.2	+	1	2362	c.2305T>G	c.(2305-2307)TTA>GTA	p.L769V	ZNF407_uc010xfc.1_Missense_Mutation_p.L769V|ZNF407_uc010dqu.1_Missense_Mutation_p.L769V|ZNF407_uc002llu.2_Missense_Mutation_p.L768V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATATTGGCTTAAGCTTTGA	0.323												
ZNF516	9658	broad.mit.edu	37	18	74091004	74091004	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74091004G>A	uc010dqx.1	-	3	3301	c.3066C>T	c.(3064-3066)GGC>GGT	p.G1022G	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731												
ZNF236	7776	broad.mit.edu	37	18	74632003	74632003	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74632003C>T	uc002lmi.2	+	20	3738	c.3540C>T	c.(3538-3540)AGC>AGT	p.S1180S	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1180	C2H2-type 22.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAAACCTAGCGACCTGGTGA	0.612												
ZNF236	7776	broad.mit.edu	37	18	74680287	74680287	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74680287G>A	uc002lmi.2	+	31	5728	c.5530G>A	c.(5530-5532)GTC>ATC	p.V1844I	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1844					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCACCCACGTCTTCTGATG	0.562												
GALR1	2587	broad.mit.edu	37	18	74962929	74962929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74962929G>A	uc002lms.3	+	1	922	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	142	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CACTCGCGGCGCTCCTCCTCC	0.657												
SALL3	27164	broad.mit.edu	37	18	76752132	76752132	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:76752132C>T	uc002lmt.2	+	2	141	c.141C>T	c.(139-141)GGC>GGT	p.G47G	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCGGGGGCGAGGAGACCA	0.701												
ATP9B	374868	broad.mit.edu	37	18	77089290	77089290	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:77089290C>T	uc002lmx.2	+	16	1937	c.1923C>T	c.(1921-1923)GGC>GGT	p.G641G	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.G641G|ATP9B_uc002lmz.1_Silent_p.G335G	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	641	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGCGGATGGGCGTCATCGTCA	0.542												
CELF5	60680	broad.mit.edu	37	19	3273874	3273874	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3273874C>T	uc002lxm.2	+	3	384	c.347C>T	c.(346-348)GCG>GTG	p.A116V	CELF5_uc002lxl.1_Missense_Mutation_p.A116V|CELF5_uc010dtj.1_Missense_Mutation_p.A116V|CELF5_uc010xhg.1_Missense_Mutation_p.A2V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	116	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						CTGCAGATGGCGCGGCCAATC	0.637												
TBXA2R	6915	broad.mit.edu	37	19	3600069	3600069	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3600069G>A	uc002lyg.1	-	2	778	c.564C>T	c.(562-564)GGC>GGT	p.G188G	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	188	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGACTCGGCGCCCAGCGTCA	0.716												
MATK	4145	broad.mit.edu	37	19	3779046	3779046	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3779046G>A	uc002lyt.2	-	12	1541	c.1141C>T	c.(1141-1143)CTA>TTA	p.L381L	MATK_uc002lyv.2_Silent_p.L382L|MATK_uc002lyu.2_Silent_p.L340L|MATK_uc010dtq.2_Silent_p.L381L	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	381	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGTCTAGCCCCTTCCGC	0.647												
EEF2	1938	broad.mit.edu	37	19	3982369	3982369	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3982369G>T	uc002lze.2	-	5	749	c.666C>A	c.(664-666)GCC>GCA	p.A222A		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	222						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGGTGAAGGCCCACCCGT	0.627												
SEMA6B	10501	broad.mit.edu	37	19	4550834	4550834	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:4550834C>T	uc010duc.1	-	10	1136	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SEMA6B_uc010dud.2_Silent_p.P366P|SEMA6B_uc010xih.1_Silent_p.P366P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	366	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGATCCTCCGGCACCGGCG	0.662												
PTPRS	5802	broad.mit.edu	37	19	5214614	5214614	+	Silent	SNP	C	C	T	rs149934681		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:5214614C>T	uc002mbv.2	-	29	4686	c.4452G>A	c.(4450-4452)TCG>TCA	p.S1484S	PTPRS_uc002mbu.1_Silent_p.S1053S|PTPRS_uc010xin.1_Silent_p.S1026S|PTPRS_uc002mbw.2_Silent_p.S1446S|PTPRS_uc002mbx.2_Silent_p.S1041S|PTPRS_uc002mby.2_Silent_p.S1037S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1484	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGATGGTCGCCGACCGCTGCT	0.647												
PTPRS	5802	broad.mit.edu	37	19	5218520	5218520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:5218520C>T	uc002mbv.2	-	25	4193	c.3959G>A	c.(3958-3960)CGC>CAC	p.R1320H	PTPRS_uc002mbu.1_Missense_Mutation_p.R889H|PTPRS_uc010xin.1_Missense_Mutation_p.R889H|PTPRS_uc002mbw.2_Missense_Mutation_p.R1298H|PTPRS_uc002mbx.2_Missense_Mutation_p.R893H|PTPRS_uc002mby.2_Missense_Mutation_p.R889H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1320	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCATTTGGTGCGGGGTTCTGA	0.512												
ALKBH7	84266	broad.mit.edu	37	19	6374319	6374319	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:6374319C>T	uc002meo.1	+	2	698	c.310C>T	c.(310-312)CTC>TTC	p.L104F		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	104						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCAGACCCTGCTCTCCTCCGT	0.682												
TRIP10	9322	broad.mit.edu	37	19	6743586	6743586	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:6743586G>A	uc002mfs.2	+	6	556	c.490G>A	c.(490-492)GCC>ACC	p.A164T	TRIP10_uc010dux.1_Missense_Mutation_p.A164T|TRIP10_uc002mfr.2_Missense_Mutation_p.A164T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	164	Potential.|Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						GGATATCAACGCCACCAAGGC	0.622												
INSR	3643	broad.mit.edu	37	19	7170599	7170599	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7170599G>A	uc002mgd.1	-	6	1541	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	INSR_uc002mge.1_Missense_Mutation_p.R478C|INSR_uc002mgf.2_Missense_Mutation_p.R478C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	478					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTCCTGGCGCCCCTTGGTT	0.403												
ZNF358	140467	broad.mit.edu	37	19	7584476	7584476	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7584476C>T	uc002mgn.2	+	2	518	c.348C>T	c.(346-348)GGC>GGT	p.G116G		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	116					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCAGCCCCGGCGATCCAAAAG	0.537												
CLEC4M	10332	broad.mit.edu	37	19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7830088G>A	uc002mih.2	+	3	266	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50T|CLEC4M_uc002mic.2_Missense_Mutation_p.A22T|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	50	Helical; Signal-anchor for type II membrane protein; (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						TGGCCATGGCGCCCTGGTGCT	0.632												
RAB11B	9230	broad.mit.edu	37	19	8464780	8464780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8464780G>A	uc002mju.3	+	2	170	c.74G>A	c.(73-75)AGC>AAC	p.S25N	RAB11B_uc010xkd.1_Missense_Mutation_p.S25N	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	25	GTP.				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						GTGGGCAAGAGCAACCTGCTG	0.642												
RAB11B	9230	broad.mit.edu	37	19	8464795	8464795	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8464795G>A	uc002mju.3	+	2	185	c.89G>A	c.(88-90)CGC>CAC	p.R30H	RAB11B_uc010xkd.1_Missense_Mutation_p.R30H	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	30					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						CTGCTGTCGCGCTTCACCCGC	0.637												
HNRNPM	4670	broad.mit.edu	37	19	8531211	8531211	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8531211A>G	uc010dwe.2	+	7	803	c.723A>G	c.(721-723)GGA>GGG	p.G241G	HNRNPM_uc010dwc.1_Silent_p.G241G|HNRNPM_uc010xke.1_Silent_p.G202G|HNRNPM_uc010dwd.2_Silent_p.G202G|HNRNPM_uc002mka.2_Silent_p.G121G	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	241	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						ATAAAGATGGAAAAAGTCGTG	0.403												
PRAM1	84106	broad.mit.edu	37	19	8563987	8563987	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8563987G>A	uc002mkd.2	-	2	725	c.705C>T	c.(703-705)GGC>GGT	p.G235G	PRAM1_uc002mkc.2_Silent_p.G235G	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	283	Pro-rich.						lipid binding|protein binding				0						TCTTAGGGAGGCCACCGACCT	0.637												
MUC16	94025	broad.mit.edu	37	19	9047057	9047057	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9047057G>T	uc002mkp.2	-	5	34778	c.34574C>A	c.(34573-34575)CCT>CAT	p.P11525H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11527	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTGGCCCAGGACTGGTGAT	0.507												
MUC16	94025	broad.mit.edu	37	19	9057555	9057555	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9057555C>A	uc002mkp.2	-	3	30095	c.29891G>T	c.(29890-29892)GGG>GTG	p.G9964V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9966	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTGTAGCCCCAGGAGAACT	0.478												
MUC16	94025	broad.mit.edu	37	19	9077612	9077612	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9077612C>A	uc002mkp.2	-	3	10038	c.9834G>T	c.(9832-9834)TTG>TTT	p.L3278F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3279	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTCTGTAGCCAACATATTTT	0.547												
ZNF317	57693	broad.mit.edu	37	19	9271917	9271917	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9271917C>T	uc002mku.2	+	7	1871	c.1596C>T	c.(1594-1596)TGC>TGT	p.C532C	ZNF317_uc002mkv.2_Silent_p.C391C|ZNF317_uc002mkw.2_Silent_p.C500C|ZNF317_uc002mkx.2_Silent_p.C447C|ZNF317_uc002mky.2_Silent_p.C415C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTACGAATGCGATCACTGTG	0.567												
ZNF699	374879	broad.mit.edu	37	19	9406577	9406577	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9406577C>A	uc002mlc.1	-	5	1503	c.1503G>T	c.(1501-1503)AAG>AAT	p.K501N		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATACGGCTTCTCTCCGC	0.433												
ILF3	3609	broad.mit.edu	37	19	10791720	10791720	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:10791720G>A	uc002mpn.2	+	10	1300	c.983G>A	c.(982-984)GGC>GAC	p.G328D	ILF3_uc002mpm.2_Missense_Mutation_p.G328D|ILF3_uc002mpl.2_Missense_Mutation_p.G328D|ILF3_uc002mpk.2_Missense_Mutation_p.G328D|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.G328D|ILF3_uc002mpp.2_Missense_Mutation_p.G149D	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	328	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCTGCCTTCGGCCAGCTCCAT	0.592												
TSPAN16	26526	broad.mit.edu	37	19	11417320	11417320	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11417320G>A	uc002mqv.1	+	5	641	c.491G>A	c.(490-492)GGC>GAC	p.G164D	TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	164	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						GATTTTTCTGGCTCTTCCTTC	0.448												
CCDC151	115948	broad.mit.edu	37	19	11541544	11541544	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11541544G>T	uc002mrs.2	-	3	562	c.419C>A	c.(418-420)CCA>CAA	p.P140Q	CCDC151_uc002mrr.2_Missense_Mutation_p.P75Q|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	140	Potential.									ovary(1)	1						CTTCAGGTATGGCTTCTCCCA	0.582												
ELAVL3	1995	broad.mit.edu	37	19	11569311	11569311	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11569311C>T	uc002mry.1	-	4	829	c.449G>A	c.(448-450)CGC>CAC	p.R150H	ELAVL3_uc002mrx.1_Missense_Mutation_p.R150H	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	150	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CGTGATGATGCGGCCGTACTG	0.632												
ZNF878	729747	broad.mit.edu	37	19	12155668	12155668	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12155668G>T	uc002mta.1	-	5	689	c.689C>A	c.(688-690)CCC>CAC	p.P230H		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	183	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACAGAACTGGGAAAACTGAA	0.393												
TNPO2	30000	broad.mit.edu	37	19	12830079	12830079	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12830079T>C	uc002muo.2	-	3	356	c.171A>G	c.(169-171)TCA>TCG	p.S57S	TNPO2_uc002mup.2_Silent_p.S149S|TNPO2_uc002muq.2_Silent_p.S57S|TNPO2_uc002mur.2_Silent_p.S57S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	57	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GCGTACCTTCTGACTTGAGTC	0.547												
BEST2	54831	broad.mit.edu	37	19	12867058	12867058	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12867058C>A	uc002mux.2	+	8	1052	c.1052C>A	c.(1051-1053)ACT>AAT	p.T351N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	351	Cytoplasmic (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						ACAGCGGCTACTGTCTTCCAG	0.617												
RAD23A	5886	broad.mit.edu	37	19	13059913	13059913	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:13059913G>A	uc002mvw.1	+	6	728	c.619G>A	c.(619-621)GAG>AAG	p.E207K	RAD23A_uc002mvx.1_Missense_Mutation_p.E207K|RAD23A_uc002mvz.1_Missense_Mutation_p.E207K|RAD23A_uc002mwa.1_Missense_Mutation_p.E207K|RAD23A_uc002mvy.1_Missense_Mutation_p.E42K|RAD23A_uc010xmw.1_Missense_Mutation_p.E42K	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	207					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						TGGGAGCCCCGAGCCGGAACA	0.622								NER				
MRI1	84245	broad.mit.edu	37	19	13879814	13879814	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:13879814C>T	uc002mxe.2	+	5	967	c.901C>T	c.(901-903)CCG>TCG	p.P301S	MRI1_uc002mxf.2_Missense_Mutation_p.P254S	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	301					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TGAAGAGCGACCGGGCCAGGA	0.592												
DCAF15	90379	broad.mit.edu	37	19	14070014	14070014	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:14070014G>A	uc002mxt.2	+	7	948	c.942G>A	c.(940-942)TCG>TCA	p.S314S	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	314										central_nervous_system(1)	1						CTGAGCCCTCGCCCGCCATTG	0.701												
OR1I1	126370	broad.mit.edu	37	19	15198348	15198348	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15198348A>G	uc010xoe.1	+	1	472	c.472A>G	c.(472-474)ATA>GTA	p.I158V		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3						CCAGTCTCTCATACACACCTG	0.567												
ILVBL	10994	broad.mit.edu	37	19	15227320	15227320	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15227320G>T	uc002nam.2	-	11	1321	c.1200C>A	c.(1198-1200)TCC>TCA	p.S400S	ILVBL_uc010xof.1_Silent_p.S41S|ILVBL_uc010dzw.2_Silent_p.S293S	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	400						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						TCAGCACGAAGGAACCCACAT	0.612												
NOTCH3	4854	broad.mit.edu	37	19	15273352	15273352	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15273352G>A	uc002nan.2	-	32	5913	c.5837C>T	c.(5836-5838)GCT>GTT	p.A1946V		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1946	Cytoplasmic (Potential).|ANK 4.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGCCGCAGCCCAGTGTAA	0.572												
AKAP8	10270	broad.mit.edu	37	19	15471735	15471735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15471735C>T	uc002nav.2	-	12	1512	c.1451G>A	c.(1450-1452)TGC>TAC	p.C484Y	AKAP8_uc010dzy.2_Missense_Mutation_p.C33Y|AKAP8_uc010dzz.1_RNA	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	484	C2H2 AKAP95-type 2.				signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TAGCATGTCGCAGGCCAGGCA	0.587												
USE1	55850	broad.mit.edu	37	19	17330465	17330465	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:17330465C>T	uc002nfo.2	+	8	683	c.623C>T	c.(622-624)GCG>GTG	p.A208V	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	208	Cytoplasmic (Potential).|Potential.				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						CTGAAAATGGCGGACCAGAAC	0.537												
JUND	3727	broad.mit.edu	37	19	18391865	18391865	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:18391865G>T	uc002nip.2	-	1	568	c.430C>A	c.(430-432)CTG>ATG	p.L144M	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	144					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						AAATCCTCCAGGGCCTTGACG	0.562												
TMEM59L	25789	broad.mit.edu	37	19	18727908	18727908	+	Silent	SNP	C	C	T	rs138742174		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:18727908C>T	uc002njy.3	+	5	747	c.660C>T	c.(658-660)CAC>CAT	p.H220H	TMEM59L_uc010ebu.1_Silent_p.H220H	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	220						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TGGAGGTGCACGTGGGTAAGG	0.632												
CILP2	148113	broad.mit.edu	37	19	19653320	19653320	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:19653320C>T	uc002nmv.3	+	5	814	c.729C>T	c.(727-729)CAC>CAT	p.H243H	CILP2_uc002nmw.3_Silent_p.H249H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	243						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCGATGCTCACGGAACCTTCC	0.667												
GMIP	51291	broad.mit.edu	37	19	19746286	19746286	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:19746286G>A	uc002nnd.2	-	15	1615	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	GMIP_uc010xrb.1_Missense_Mutation_p.R474W|GMIP_uc010xrc.1_Missense_Mutation_p.R471W	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	500	Phorbol-ester/DAG-type.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GCTGGGCCCCGCAGTCGCCGC	0.652												
ZNF43	7594	broad.mit.edu	37	19	21991483	21991483	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:21991483T>G	uc002nqj.2	-	4	1486	c.1356A>C	c.(1354-1356)AAA>AAC	p.K452N	ZNF43_uc010ecv.2_Missense_Mutation_p.K446N|ZNF43_uc002nql.2_Missense_Mutation_p.K446N|ZNF43_uc002nqm.2_Missense_Mutation_p.K446N|ZNF43_uc002nqk.2_Missense_Mutation_p.K382N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTGTAGGGTTTCTCTCCAG	0.393												
ZNF675	171392	broad.mit.edu	37	19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:23836033C>T	uc002nri.2	-	4	1884	c.1702G>A	c.(1702-1704)GTG>ATG	p.V568M		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299												
ZNF536	9745	broad.mit.edu	37	19	30935034	30935034	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:30935034C>T	uc002nsu.1	+	2	703	c.565C>T	c.(565-567)CGT>TGT	p.R189C	ZNF536_uc010edd.1_Missense_Mutation_p.R189C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGGCAAGGGGCGTGGGCGTGT	0.677												
NUDT19	390916	broad.mit.edu	37	19	33202775	33202775	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:33202775G>A	uc010edf.2	+	3	1040	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	347						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					ACATACCATCGCCACCTTTAT	0.388												
SLC7A9	11136	broad.mit.edu	37	19	33355008	33355008	+	Missense_Mutation	SNP	C	C	T	rs140134166	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:33355008C>T	uc002ntv.3	-	4	589	c.472G>A	c.(472-474)GCC>ACC	p.A158T	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.A158T|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	158	Helical; (Potential).		A -> AA (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCACAGATGGCGGCGGCGGCC	0.607												
LSR	51599	broad.mit.edu	37	19	35741297	35741297	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:35741297T>C	uc002nyl.2	+	2	556	c.333T>C	c.(331-333)TGT>TGC	p.C111C	LSR_uc002nym.2_Silent_p.C111C|LSR_uc002nyn.2_Silent_p.C111C|LSR_uc002nyo.2_Silent_p.C111C|LSR_uc010xsr.1_Silent_p.C111C|LSR_uc002nyp.2_Silent_p.C74C	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	111	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTGCCCTGTACCTACCAGA	0.622												
ATP4A	495	broad.mit.edu	37	19	36050835	36050835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36050835C>T	uc002oal.1	-	7	957	c.928G>A	c.(928-930)GCC>ACC	p.A310T	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	310	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AAGAGAATGGCCAGGCCCGCG	0.552												
ATP4A	495	broad.mit.edu	37	19	36051332	36051332	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36051332G>T	uc002oal.1	-	6	749	c.720C>A	c.(718-720)CCC>CCA	p.P240P	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	240	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCGTGCACTCGGGTGAGCGGG	0.657												
NPHS1	4868	broad.mit.edu	37	19	36340027	36340027	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36340027G>A	uc002oby.2	-	8	863	c.863C>T	c.(862-864)GCG>GTG	p.A288V		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	288	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGCCCCACGCTGTGGACAC	0.677												
CLIP3	25999	broad.mit.edu	37	19	36508818	36508818	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36508818T>C	uc010eeq.1	-	9	1541	c.1259A>G	c.(1258-1260)GAC>GGC	p.D420G	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.D420G	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	420					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGGACCTGGTCTCCAACCTC	0.622												
THAP8	199745	broad.mit.edu	37	19	36530914	36530914	+	Missense_Mutation	SNP	G	G	A	rs146907955		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36530914G>A	uc002oda.1	-	2	753	c.208C>T	c.(208-210)CGC>TGC	p.R70C	uc002ocy.2_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R27C|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	THAP domain containing 8	70	THAP-type.						DNA binding|metal ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACACCCCAGCGCCACTGGAAG	0.662												
WDR62	284403	broad.mit.edu	37	19	36595895	36595895	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36595895G>T	uc002odc.2	+	32	4613	c.4522G>T	c.(4522-4524)GTG>TTG	p.V1508L	WDR62_uc002odd.2_Missense_Mutation_p.V1513L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1508					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGCTGCTGGTGCAGGCCGT	0.662												
ZNF570	148268	broad.mit.edu	37	19	37975340	37975340	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:37975340A>C	uc002ogk.1	+	5	1345	c.816A>C	c.(814-816)AAA>AAC	p.K272N	ZNF570_uc010efl.1_Missense_Mutation_p.K328N|ZNF570_uc010xtr.1_Missense_Mutation_p.K69N	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGAAAAACCCTATGAAT	0.398												
GGN	199720	broad.mit.edu	37	19	38876629	38876629	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:38876629C>T	uc002oij.1	-	3	1408	c.1273G>A	c.(1273-1275)GAG>AAG	p.E425K	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.E342K	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	425	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCATGGGCTCGCCATTGGTG	0.483												
LGALS7	3963	broad.mit.edu	37	19	39262575	39262575	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:39262575C>T	uc002oje.3	-	3	216	c.191G>A	c.(190-192)AGC>AAC	p.S64N		NM_002307	NP_002298	P47929	LEG7_HUMAN	galectin-7	64	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0	all_cancers(60;1.96e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTGCTCCTTGCTGTTGAAGAC	0.667												
PAK4	10298	broad.mit.edu	37	19	39667317	39667317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:39667317G>A	uc002okj.1	+	9	1908	c.1447G>A	c.(1447-1449)GCC>ACC	p.A483T	PAK4_uc002okl.1_Missense_Mutation_p.A483T|PAK4_uc002okn.1_Missense_Mutation_p.A483T|PAK4_uc002okm.1_Missense_Mutation_p.A330T|PAK4_uc002oko.1_Missense_Mutation_p.A330T|PAK4_uc002okp.1_Missense_Mutation_p.A393T	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	483	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CTACTGGATGGCCCCAGAGCT	0.647												
SUPT5H	6829	broad.mit.edu	37	19	39957172	39957172	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:39957172G>A	uc002olo.3	+	12	1108	c.929G>A	c.(928-930)CGC>CAC	p.R310H	SUPT5H_uc002olp.3_Missense_Mutation_p.R310H|SUPT5H_uc002olq.3_Missense_Mutation_p.R306H|SUPT5H_uc002oln.3_Missense_Mutation_p.R310H|SUPT5H_uc002olr.3_Missense_Mutation_p.R310H|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	310					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)			ATGATCCCACGCATCGACTAC	0.622												
SPTBN4	57731	broad.mit.edu	37	19	41075621	41075621	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41075621C>A	uc002ony.2	+	32	7101	c.7015C>A	c.(7015-7017)CTG>ATG	p.L2339M	SPTBN4_uc002onz.2_Missense_Mutation_p.L2339M|SPTBN4_uc010egx.2_Missense_Mutation_p.L1082M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2339					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCCAGGGCTGCCTGCTGG	0.602												
NUMBL	9253	broad.mit.edu	37	19	41188661	41188661	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41188661C>A	uc002oon.2	-	5	539	c.371G>T	c.(370-372)GGG>GTG	p.G124V	NUMBL_uc010xvq.1_Missense_Mutation_p.G83V|NUMBL_uc002ooo.2_Missense_Mutation_p.G124V|NUMBL_uc010xvr.1_Missense_Mutation_p.G83V	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	124	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CACTCGGAGCCCATCGGCTGA	0.647												
SNRPA	6626	broad.mit.edu	37	19	41271032	41271032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41271032C>T	uc002ooz.2	+	6	1344	c.809C>T	c.(808-810)ACG>ATG	p.T270M	SNRPA_uc002opa.2_Missense_Mutation_p.T220M	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	270	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTTAAGATCACGCAGAACAAC	0.597												
ATP1A3	478	broad.mit.edu	37	19	42473622	42473622	+	Missense_Mutation	SNP	C	C	T	rs149600313	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42473622C>T	uc002osg.2	-	19	2807	c.2653G>A	c.(2653-2655)GTC>ATC	p.V885I	ATP1A3_uc010xwf.1_Missense_Mutation_p.V896I|ATP1A3_uc010xwg.1_Missense_Mutation_p.V855I|ATP1A3_uc010xwh.1_Missense_Mutation_p.V898I|ATP1A3_uc002osh.2_Missense_Mutation_p.V885I	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	885	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGGTCATTGACGGTGCGGTCA	0.592												
CIC	23152	broad.mit.edu	37	19	42793486	42793486	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42793486G>A	uc002otf.1	+	8	1328	c.1288G>A	c.(1288-1290)GCC>ACC	p.A430T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				TCAGCGTGCGGCCAGTGAGGA	0.627			T	DUX4	soft tissue sarcoma							
MEGF8	1954	broad.mit.edu	37	19	42830410	42830410	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42830410G>T	uc002otl.3	+	1	650	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	5						integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CCCTGGGCAAGGTTCTGGCCA	0.687											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PSG3	5671	broad.mit.edu	37	19	43243121	43243121	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:43243121A>G	uc002oue.2	-	2	317	c.185T>C	c.(184-186)CTT>CCT	p.L62P	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.L84P	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GTAGCCAGCAAGATTCTGGGG	0.448												
PSG3	5671	broad.mit.edu	37	19	43243165	43243165	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:43243165C>A	uc002oue.2	-	2	273	c.141G>T	c.(139-141)AAG>AAT	p.K47N	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.K69N	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	47	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CGTCCTTCCCCTTGGAAACTT	0.463												
RELB	5971	broad.mit.edu	37	19	45515423	45515423	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:45515423G>A	uc002paj.1	+	5	519	c.393G>A	c.(391-393)GAG>GAA	p.E131E		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	131	RHD.					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)		TCATCACGGAGCAGCCCAAGC	0.751												
MARK4	57787	broad.mit.edu	37	19	45805817	45805817	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:45805817C>T	uc002pbb.1	+	17	2113	c.2108C>T	c.(2107-2109)GCG>GTG	p.A703V	MARK4_uc002pba.1_3'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	703	KA1.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACGGGGGTGCGGGCGGGCCC	0.746												
QPCTL	54814	broad.mit.edu	37	19	46206208	46206208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:46206208G>A	uc010xxr.1	+	7	1271	c.1050G>A	c.(1048-1050)TGG>TGA	p.W350*	QPCTL_uc010ekn.2_Nonsense_Mutation_p.W256*	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	350					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CTGCTGTCTGGCACACCCCTG	0.602												
HIF3A	64344	broad.mit.edu	37	19	46825200	46825200	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:46825200C>T	uc002peh.2	+	10	1341	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	HIF3A_uc002peg.3_Missense_Mutation_p.R438W|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R382W|HIF3A_uc002pej.1_Missense_Mutation_p.R369W|HIF3A_uc002pek.2_Missense_Mutation_p.R382W|HIF3A_uc010xxy.1_Missense_Mutation_p.R369W|HIF3A_uc002pel.2_Missense_Mutation_p.R436W|HIF3A_uc010xxz.1_Missense_Mutation_p.R387W	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTGGCCACACGGCACCCCCA	0.637												
SLC8A2	6543	broad.mit.edu	37	19	47933560	47933560	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:47933560C>T	uc002pgx.2	-	10	2830	c.2552G>A	c.(2551-2553)CGC>CAC	p.R851H	SLC8A2_uc010xyq.1_Missense_Mutation_p.R607H|SLC8A2_uc010xyr.1_Missense_Mutation_p.R314H|SLC8A2_uc010ele.2_Silent_p.A877A	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	851	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGTGCCAGTGCGCACCTCGAA	0.701												
FAM83E	54854	broad.mit.edu	37	19	49113248	49113248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49113248C>T	uc002pjn.2	-	3	708	c.643G>A	c.(643-645)GTC>ATC	p.V215I		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	215										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACGACACGGACATCCACGTTC	0.637												
BCAT2	587	broad.mit.edu	37	19	49303509	49303509	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49303509G>A	uc002pkr.2	-	4	383	c.346C>T	c.(346-348)CGC>TGC	p.R116C	BCAT2_uc002pkp.2_Missense_Mutation_p.R76C|BCAT2_uc002pkq.3_Missense_Mutation_p.R76C|BCAT2_uc002pks.2_Missense_Mutation_p.R76C|BCAT2_uc002pkt.2_Missense_Mutation_p.R24C|BCAT2_uc010emh.1_Missense_Mutation_p.R116C|BCAT2_uc010emi.1_Missense_Mutation_p.R24C|BCAT2_uc002pku.1_Missense_Mutation_p.R76C|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	116						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CGGAAGAGGCGCACCTGCTGG	0.657												
PPFIA3	8541	broad.mit.edu	37	19	49651343	49651343	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49651343C>T	uc002pmr.2	+	24	3171	c.2839C>T	c.(2839-2841)CTG>TTG	p.L947L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.L806L|PPFIA3_uc002pmt.2_Silent_p.L86L|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	947						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCCCCAGATCCTGGCATATGG	0.607												
HRC	3270	broad.mit.edu	37	19	49657832	49657832	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49657832A>G	uc002pmv.2	-	1	850	c.663T>C	c.(661-663)AGT>AGC	p.S221S		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	221	4 X tandem repeats, acidic.|2-4.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCCTCTTCACTCCCATGGC	0.368												
ALDH16A1	126133	broad.mit.edu	37	19	49973636	49973636	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49973636C>T	uc002pnt.2	+	17	2437	c.2321C>T	c.(2320-2322)GCC>GTC	p.A774V	ALDH16A1_uc010yar.1_Missense_Mutation_p.A723V|ALDH16A1_uc010yas.1_Missense_Mutation_p.A609V|ALDH16A1_uc010yat.1_Missense_Mutation_p.A611V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	774							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGCCCGCGGGCCTGGGACCAG	0.701												
PRRG2	5639	broad.mit.edu	37	19	50086849	50086849	+	Missense_Mutation	SNP	C	C	T	rs141947949		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50086849C>T	uc002pon.3	+	3	301	c.136C>T	c.(136-138)CGG>TGG	p.R46W	PRRG2_uc010yaz.1_Missense_Mutation_p.R23W	NM_000951	NP_000942	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	46						extracellular region|integral to plasma membrane	calcium ion binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TAGCCATACCCGGATTCCAAG	0.592												
CPT1C	126129	broad.mit.edu	37	19	50209247	50209247	+	Missense_Mutation	SNP	G	G	A	rs151010811		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50209247G>A	uc002ppj.2	+	10	1251	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	CPT1C_uc002ppl.3_Missense_Mutation_p.R315Q|CPT1C_uc002ppi.2_Missense_Mutation_p.R266Q|CPT1C_uc002ppk.2_Missense_Mutation_p.R338Q|CPT1C_uc010eng.2_Missense_Mutation_p.R349Q|CPT1C_uc010enh.2_Missense_Mutation_p.R349Q|CPT1C_uc010ybc.1_Missense_Mutation_p.R220Q|CPT1C_uc010eni.1_Missense_Mutation_p.R6Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	349	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACCCACTCCCGAAACAGCCTG	0.622												
FAM71E1	112703	broad.mit.edu	37	19	50971041	50971041	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50971041G>A	uc002psh.2	-	4	943	c.585C>T	c.(583-585)AGC>AGT	p.S195S	FAM71E1_uc002psg.2_Silent_p.S179S|FAM71E1_uc002psi.2_RNA	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	195										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGACACCGGCTTTTGTCGT	0.622												
SHANK1	50944	broad.mit.edu	37	19	51170839	51170839	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51170839G>A	uc002psx.1	-	22	4397	c.4378C>T	c.(4378-4380)CTG>TTG	p.L1460L	SHANK1_uc002psw.1_Silent_p.L844L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1460					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCAGCTGCAGCAGGAGGGGC	0.771												
KLK4	9622	broad.mit.edu	37	19	51411835	51411835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51411835C>T	uc002pua.1	-	3	475	c.475G>A	c.(475-477)GGC>AGC	p.G159S	KLK4_uc002pty.1_Missense_Mutation_p.G110R|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.G64S|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.G64S|KLK4_uc002pud.1_Missense_Mutation_p.G64S	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	159	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637												
SIGLEC8	27181	broad.mit.edu	37	19	51957485	51957485	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51957485G>T	uc002pwt.2	-	6	1300	c.1233C>A	c.(1231-1233)GGC>GGA	p.G411G	SIGLEC8_uc010yda.1_Silent_p.G302G|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.G318G	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	411	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGAGGCCGAGCCCCTGATGG	0.602												
ZNF836	162962	broad.mit.edu	37	19	52663747	52663747	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:52663747A>G	uc010ydi.1	-	4	487	c.113T>C	c.(112-114)TTG>TCG	p.L38S	ZNF836_uc010ydj.1_Missense_Mutation_p.L38S	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTAGTTCTCCAACATCACATC	0.443												
ZNF347	84671	broad.mit.edu	37	19	53644716	53644716	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:53644716C>A	uc002qbb.1	-	5	1434	c.1365G>T	c.(1363-1365)AAG>AAT	p.K455N	ZNF347_uc010eql.1_Missense_Mutation_p.K456N|ZNF347_uc002qbc.1_Missense_Mutation_p.K456N	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGCTTTTCTCCGG	0.428												
LENG8	114823	broad.mit.edu	37	19	54967828	54967828	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:54967828C>A	uc002qfv.1	+	10	1492	c.1348C>A	c.(1348-1350)CCC>ACC	p.P450T	LENG8_uc002qfw.2_Missense_Mutation_p.P487T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	450							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGATCTGGCGCCCACCAAGCG	0.657												
RDH13	112724	broad.mit.edu	37	19	55556513	55556513	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:55556513G>T	uc002qio.3	-	7	1110	c.925C>A	c.(925-927)CTT>ATT	p.L309I	RDH13_uc002qip.2_Missense_Mutation_p.L238I|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	309							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TCAGCCCAAAGCCTCCGGGCC	0.617												
NLRP5	126206	broad.mit.edu	37	19	56565026	56565026	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCTCACCGCCGCGTGCTG	0.567												
ZNF549	256051	broad.mit.edu	37	19	58050284	58050284	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:58050284G>C	uc002qpb.1	+	4	2161	c.1912G>C	c.(1912-1914)GAA>CAA	p.E638Q	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E625Q	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATATAACAGAAGAGCCCTA	0.438												
ZBTB45	84878	broad.mit.edu	37	19	59027824	59027824	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:59027824C>A	uc002qtd.2	-	2	1509	c.1217G>T	c.(1216-1218)AGC>ATC	p.S406I	ZBTB45_uc002qte.2_Missense_Mutation_p.S406I|ZBTB45_uc002qtf.2_Missense_Mutation_p.S406I	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	406	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCGACAGTGGCTGCACTCATA	0.642												
PXDN	7837	broad.mit.edu	37	2	1652162	1652162	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:1652162C>T	uc002qxa.2	-	17	3454	c.3390G>A	c.(3388-3390)GTG>GTA	p.V1130V		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1130					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGCGAGGGCACACGCATTT	0.632												
PXDN	7837	broad.mit.edu	37	2	1652753	1652753	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:1652753G>A	uc002qxa.2	-	17	2863	c.2799C>T	c.(2797-2799)CGC>CGT	p.R933R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	933					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGCAGGCCGCGGTGGCTGG	0.692												
COLEC11	78989	broad.mit.edu	37	2	3691529	3691529	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:3691529G>A	uc002qya.2	+	7	785	c.637G>A	c.(637-639)GCC>ACC	p.A213T	COLEC11_uc002qxz.2_Missense_Mutation_p.A210T|COLEC11_uc002qyb.2_Missense_Mutation_p.A189T|COLEC11_uc002qyc.2_Missense_Mutation_p.A189T|COLEC11_uc010ewo.2_Missense_Mutation_p.A165T|COLEC11_uc010ewp.2_Missense_Mutation_p.A187T|COLEC11_uc010ewq.2_Missense_Mutation_p.A163T|COLEC11_uc010ewr.2_Missense_Mutation_p.A163T|COLEC11_uc010ews.2_Missense_Mutation_p.A139T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	213	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAAGGAGGGCGCCTTCGTGTA	0.632												
ITGB1BP1	9270	broad.mit.edu	37	2	9547672	9547672	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:9547672T>C	uc002qzj.2	-	6	614	c.437A>G	c.(436-438)GAC>GGC	p.D146G	ITGB1BP1_uc002qzk.2_Intron|ITGB1BP1_uc002qzl.2_Intron|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.D102G|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.D146G	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	146	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CCCCAGACCGTCATCGTAACA	0.488												
PDIA6	10130	broad.mit.edu	37	2	10929969	10929969	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:10929969G>T	uc002rau.2	-	8	884	c.746C>A	c.(745-747)CCT>CAT	p.P249H	PDIA6_uc010yjg.1_Missense_Mutation_p.P246H|PDIA6_uc002rav.2_Missense_Mutation_p.P301H|PDIA6_uc010yjh.1_Missense_Mutation_p.P254H|PDIA6_uc002raw.2_Missense_Mutation_p.P297H	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	249	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATAATCCACAGGAGACTCGCC	0.428												
GREB1	9687	broad.mit.edu	37	2	11750894	11750894	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:11750894G>A	uc002rbk.1	+	18	3047	c.2747G>A	c.(2746-2748)GGC>GAC	p.G916D	GREB1_uc002rbo.1_Missense_Mutation_p.G550D|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	916						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCGTAAGCGGCCTCCCGCAG	0.632												
GREB1	9687	broad.mit.edu	37	2	11759017	11759017	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:11759017G>A	uc002rbk.1	+	22	4316	c.4016G>A	c.(4015-4017)CGC>CAC	p.R1339H	GREB1_uc002rbp.1_Missense_Mutation_p.R337H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1339						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCACCCCCGCAGGCTGCTG	0.716												
APOB	338	broad.mit.edu	37	2	21237354	21237354	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:21237354C>A	uc002red.2	-	24	3936	c.3808G>T	c.(3808-3810)GAC>TAC	p.D1270Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1270					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTGGAAGTCTGGCAATCCC	0.428												
ATAD2B	54454	broad.mit.edu	37	2	24042724	24042724	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24042724A>G	uc002rek.3	-	17	2454	c.2160T>C	c.(2158-2160)AGT>AGC	p.S720S	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_5'UTR|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	720							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATCTTCACTATCCTCTA	0.328												
C2orf84	653140	broad.mit.edu	37	2	24406406	24406406	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24406406C>T	uc002rfc.2	+	5	379	c.293C>T	c.(292-294)GCC>GTC	p.A98V	C2orf84_uc010eyc.2_RNA	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	hypothetical protein LOC653140	98											0						ATAGAGAAGGCCAGGCTGCAT	0.423												
NCOA1	8648	broad.mit.edu	37	2	24929665	24929665	+	Silent	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24929665A>C	uc002rfk.2	+	11	1584	c.1326A>C	c.(1324-1326)GGA>GGC	p.G442G	NCOA1_uc010eye.2_Silent_p.G442G|NCOA1_uc002rfi.2_Silent_p.G291G|NCOA1_uc002rfj.2_Silent_p.G442G|NCOA1_uc002rfl.2_Silent_p.G442G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	442	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGTTTCGGATGCTCACCCG	0.463			T	PAX3	alveolar rhadomyosarcoma							
ADCY3	109	broad.mit.edu	37	2	25043704	25043704	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:25043704G>A	uc002rfs.3	-	20	3340	c.3141C>T	c.(3139-3141)GGC>GGT	p.G1047G	ADCY3_uc002rfr.3_Silent_p.G634G|ADCY3_uc010ykm.1_Silent_p.G1048G	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1047	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)					CCAGAACCCCGCCTTTGTTCA	0.567												
ADCY3	109	broad.mit.edu	37	2	25047330	25047330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:25047330G>A	uc002rfs.3	-	16	2852	c.2653C>T	c.(2653-2655)CGA>TGA	p.R885*	ADCY3_uc002rfr.3_Nonsense_Mutation_p.R472*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.R886*	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	885	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)					TTCCAGCGTCGCATCTCATAG	0.542												
HADHA	3030	broad.mit.edu	37	2	26427022	26427022	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26427022C>T	uc002rgy.2	-	12	1259	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	HADHA_uc010yks.1_Missense_Mutation_p.A290T	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	377					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GAGACTTGGGCGATGCCTGCT	0.488												
HADHB	3032	broad.mit.edu	37	2	26502871	26502871	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26502871C>T	uc002rgz.2	+	10	1072	c.821C>T	c.(820-822)ACA>ATA	p.T274I	HADHB_uc010ykv.1_Missense_Mutation_p.T252I|HADHB_uc010ykw.1_Missense_Mutation_p.T259I|HADHB_uc002rha.2_Missense_Mutation_p.T151I|HADHB_uc010ykx.1_Missense_Mutation_p.T200I	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	274					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAAGATACAGTTACCAAA	0.363												
KCNK3	3777	broad.mit.edu	37	2	26915809	26915809	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26915809C>T	uc002rhn.2	+	1	229	c.66C>T	c.(64-66)GGC>GGT	p.G22G		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	22	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGTGGGCGCCGCGGTCT	0.582												
AGBL5	60509	broad.mit.edu	37	2	27276775	27276775	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27276775G>A	uc002rie.2	+	4	616	c.399G>A	c.(397-399)ACG>ACA	p.T133T	AGBL5_uc002ric.2_Silent_p.T133T|AGBL5_uc002rid.2_Silent_p.T133T|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	133					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGAGACGCAGTTTGTGT	0.557												
AGBL5	60509	broad.mit.edu	37	2	27282224	27282224	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27282224G>T	uc002rie.2	+	11	2258	c.2041G>T	c.(2041-2043)GGC>TGC	p.G681C	AGBL5_uc002rid.2_Missense_Mutation_p.G681C|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	681					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGCCTGGGCTCTAGTAC	0.592												
CAD	790	broad.mit.edu	37	2	27461041	27461041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27461041G>A	uc002rji.2	+	30	5008	c.4846G>A	c.(4846-4848)GCA>ACA	p.A1616T	CAD_uc010eyw.2_Missense_Mutation_p.A1553T	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1616	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATGTCACGTGGCACGGAAGGA	0.577												
ALK	238	broad.mit.edu	37	2	29450527	29450527	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:29450527C>T	uc002rmy.2	-	17	3734	c.2827G>A	c.(2827-2829)GCC>ACC	p.A943T		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	943	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)	TTGTTTGAGGCTGCATTGCCG	0.527			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			
XDH	7498	broad.mit.edu	37	2	31598263	31598263	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:31598263G>T	uc002rnv.1	-	15	1664	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	529					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGTTCTCTTGGCCCAGCTTC	0.552												
SPAST	6683	broad.mit.edu	37	2	32289087	32289087	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32289087C>T	uc002roc.2	+	1	408	c.187C>T	c.(187-189)CTG>TTG	p.L63L	SPAST_uc002rod.2_Silent_p.L63L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	63	Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGCTTCGCGCTGCTGCGTTT	0.507												
NLRC4	58484	broad.mit.edu	37	2	32449667	32449667	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32449667C>T	uc002roi.2	-	9	3196	c.2950G>A	c.(2950-2952)GTC>ATC	p.V984I	NLRC4_uc002roj.1_Missense_Mutation_p.V984I|NLRC4_uc010ezt.1_Missense_Mutation_p.V319I	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	984	LRR 13.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTTTTCTGACTAATGCTGGA	0.378												
BIRC6	57448	broad.mit.edu	37	2	32626306	32626306	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32626306C>A	uc010ezu.2	+	7	1244	c.1110C>A	c.(1108-1110)GTC>GTA	p.V370V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	370					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATTGTCAGTCACTCTTGCAA	0.458												
LTBP1	4052	broad.mit.edu	37	2	33525616	33525616	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:33525616T>C	uc002ros.2	+	21	3337	c.3337T>C	c.(3337-3339)TCG>CCG	p.S1113P	LTBP1_uc002rot.2_Missense_Mutation_p.S787P|LTBP1_uc002rou.2_Missense_Mutation_p.S786P|LTBP1_uc002rov.2_Missense_Mutation_p.S733P|LTBP1_uc010ymz.1_Missense_Mutation_p.S786P|LTBP1_uc010yna.1_Missense_Mutation_p.S733P|LTBP1_uc010ynb.1_Missense_Mutation_p.S52P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1112	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTACCAGCTGTCGGCAGCTAA	0.468												
HEATR5B	54497	broad.mit.edu	37	2	37208749	37208749	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:37208749G>A	uc002rpp.1	-	36	6196	c.6100C>T	c.(6100-6102)CGT>TGT	p.R2034C	HEATR5B_uc002rpo.1_Missense_Mutation_p.R346C|HEATR5B_uc010ezy.1_Missense_Mutation_p.R529C	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2034							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GTTTCTAGACGCACTTTCAAC	0.478												
THADA	63892	broad.mit.edu	37	2	43801624	43801624	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:43801624A>C	uc002rsw.3	-	11	1932	c.1580T>G	c.(1579-1581)GTT>GGT	p.V527G	THADA_uc002rsx.3_Missense_Mutation_p.V527G|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.V237G|THADA_uc002rta.2_Missense_Mutation_p.V237G|THADA_uc002rtb.1_Missense_Mutation_p.V527G|THADA_uc002rtc.3_Missense_Mutation_p.V527G|THADA_uc002rtd.2_Missense_Mutation_p.V527G	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	527							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GAGAGGAGAAACCCAAGTCTC	0.383												
ABCG8	64241	broad.mit.edu	37	2	44099210	44099210	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:44099210C>T	uc002rtq.2	+	7	1150	c.1060C>T	c.(1060-1062)CGT>TGT	p.R354C	ABCG8_uc010yoa.1_Missense_Mutation_p.R354C	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	354	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAAAAAGTGCGTGACTTAGA	0.537												
PREPL	9581	broad.mit.edu	37	2	44556113	44556113	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:44556113C>A	uc002ruf.2	-	9	1527	c.1492G>T	c.(1492-1494)GTG>TTG	p.V498L	PREPL_uc002rug.2_Missense_Mutation_p.V432L|PREPL_uc002ruh.2_Missense_Mutation_p.V436L|PREPL_uc010fax.2_Missense_Mutation_p.V498L|PREPL_uc002rui.3_Missense_Mutation_p.V409L|PREPL_uc002ruj.1_Missense_Mutation_p.V409L|PREPL_uc002ruk.1_Missense_Mutation_p.V498L	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	498					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCATCATCCACCAGGACCCGC	0.428												
SIX3	6496	broad.mit.edu	37	2	45169339	45169339	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45169339C>T	uc002run.1	+	1	303	c.96C>T	c.(94-96)AGC>AGT	p.S32S		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	32					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCGAGTAgcggcggcggga	0.264												
SIX2	10736	broad.mit.edu	37	2	45235938	45235938	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45235938G>A	uc002ruo.2	-	1	605	c.312C>T	c.(310-312)GGC>GGT	p.G104G	SIX2_uc002rup.2_Silent_p.G104G	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	104						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCCCACGGCGCCCAGGGGTC	0.652												
NRXN1	9378	broad.mit.edu	37	2	50170851	50170851	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:50170851C>A	uc010fbp.2	-	5	1819	c.1012G>T	c.(1012-1014)GGT>TGT	p.G338C	NRXN1_uc002rxb.3_Missense_Mutation_p.A1075S|NRXN1_uc010fbq.2_Missense_Mutation_p.G1443C|NRXN1_uc002rxe.3_Missense_Mutation_p.G1373C|NRXN1_uc010yon.1_Missense_Mutation_p.G38C|NRXN1_uc002rxa.3_Missense_Mutation_p.A38S	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	338	Extracellular (Potential).				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)			CCTAACCCACCTGAGCTCGGC	0.433												
BCL11A	53335	broad.mit.edu	37	2	60687749	60687749	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:60687749G>A	uc002sae.1	-	4	2526	c.2298C>T	c.(2296-2298)GGC>GGT	p.G766G	BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.G732G|BCL11A_uc002sad.1_Silent_p.G614G|BCL11A_uc002saf.1_Silent_p.G732G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	766					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAGGCCTTTCGCCCGTGTGGC	0.532			T	IGH@	B-CLL							
BCL11A	53335	broad.mit.edu	37	2	60688714	60688714	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:60688714C>T	uc002sae.1	-	4	1561	c.1333G>A	c.(1333-1335)GCC>ACC	p.A445T	BCL11A_uc002sab.2_Missense_Mutation_p.A445T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A114T|BCL11A_uc010ypj.1_Missense_Mutation_p.A411T|BCL11A_uc002sad.1_Missense_Mutation_p.A293T|BCL11A_uc002saf.1_Missense_Mutation_p.A411T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	445					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGAGCTGGCGGTGGAGAGA	0.647			T	IGH@	B-CLL							
EHBP1	23301	broad.mit.edu	37	2	63206358	63206358	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:63206358G>A	uc002sby.2	+	16	3083	c.2601G>A	c.(2599-2601)GAG>GAA	p.E867E	EHBP1_uc010fcp.2_Silent_p.E832E|EHBP1_uc002sbz.2_Silent_p.E832E|EHBP1_uc002scb.2_Silent_p.E832E	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	867	Potential.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGCTGAGAGAGAGAGCTCGTC	0.428									Hereditary_Prostate_Cancer			
ACTR2	10097	broad.mit.edu	37	2	65482777	65482777	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:65482777G>A	uc002sdq.2	+	6	899	c.684G>A	c.(682-684)GAG>GAA	p.E228E	ACTR2_uc010yqf.1_Silent_p.E173E|ACTR2_uc002sdp.2_Silent_p.E233E|ACTR2_uc010yqg.1_Silent_p.E176E	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	228					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						ATAATATTGAGCAAGAGCAGA	0.378												
SPRED2	200734	broad.mit.edu	37	2	65559175	65559175	+	Silent	SNP	C	C	T	rs111994933		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:65559175C>T	uc002sdr.3	-	4	919	c.384G>A	c.(382-384)ACG>ACA	p.T128T	SPRED2_uc010fcw.2_Silent_p.T125T|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	128					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGGAAGATGACGTTGTTGAAC	0.328												
ETAA1	54465	broad.mit.edu	37	2	67631124	67631124	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:67631124G>T	uc002sdz.1	+	5	1449	c.1310G>T	c.(1309-1311)AGG>ATG	p.R437M		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	437						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						CCAGATGCCAGGTTAGGAGAT	0.308												
PROKR1	10887	broad.mit.edu	37	2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:68882419C>T	uc010yqj.1	+	2	893	c.893C>T	c.(892-894)GCG>GTG	p.A298V	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	298	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTATGCTGGGCGCCCTTCTAC	0.597												
ANTXR1	84168	broad.mit.edu	37	2	69409751	69409751	+	Missense_Mutation	SNP	C	C	T	rs144438225	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:69409751C>T	uc002sfg.2	+	16	1668	c.1312C>T	c.(1312-1314)CGT>TGT	p.R438C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	438	Cytoplasmic (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						CAACAATATGCGTCGGCCTTC	0.438									Familial_Infantile_Hemangioma			
ANTXR1	84168	broad.mit.edu	37	2	69472360	69472360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:69472360C>T	uc002sfg.2	+	18	1794	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	480	Cytoplasmic (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						TTTCTAGGGGCGCTGCATCAA	0.468									Familial_Infantile_Hemangioma			
CD207	50489	broad.mit.edu	37	2	71060989	71060989	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71060989T>C	uc002shg.2	-	3	400	c.353A>G	c.(352-354)TAT>TGT	p.Y118C		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	118	Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						AGAACGCACATAACCCAGGCT	0.458												
ZNF638	27332	broad.mit.edu	37	2	71631033	71631033	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71631033T>G	uc002shx.2	+	17	3182	c.2863T>G	c.(2863-2865)TCT>GCT	p.S955A	ZNF638_uc010yqw.1_Missense_Mutation_p.S534A|ZNF638_uc002shy.2_Missense_Mutation_p.S955A|ZNF638_uc002shz.2_Missense_Mutation_p.S955A|ZNF638_uc002sia.2_Missense_Mutation_p.S955A|ZNF638_uc002sib.1_Missense_Mutation_p.S955A|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.S52A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	955	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGCTGCTGAGTCTATGGTAAA	0.299												
DYSF	8291	broad.mit.edu	37	2	71891503	71891503	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71891503C>T	uc002sie.2	+	45	5368	c.4992C>T	c.(4990-4992)GTC>GTT	p.V1664V	DYSF_uc010feg.2_Silent_p.V1695V|DYSF_uc010feh.2_Silent_p.V1671V|DYSF_uc002sig.3_Silent_p.V1650V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1685V|DYSF_uc010fef.2_Silent_p.V1702V|DYSF_uc010fei.2_Silent_p.V1681V|DYSF_uc010fek.2_Silent_p.V1682V|DYSF_uc010fej.2_Silent_p.V1672V|DYSF_uc010fel.2_Silent_p.V1651V|DYSF_uc010feo.2_Silent_p.V1696V|DYSF_uc010fem.2_Silent_p.V1686V|DYSF_uc010fen.2_Silent_p.V1703V|DYSF_uc002sif.2_Silent_p.V1665V|DYSF_uc010yqy.1_Silent_p.V545V|DYSF_uc010yqz.1_Silent_p.V425V	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1664	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGACGGTCGTCGACCTGGAGA	0.562												
EXOC6B	23233	broad.mit.edu	37	2	73052953	73052953	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73052953G>A	uc010fep.2	-	1	225	c.87C>T	c.(85-87)GAC>GAT	p.D29D	EXOC6B_uc002sij.2_Silent_p.D29D	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	29					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TGCAGGCCGTGTCAGTGCTCT	0.716												
CCT7	10574	broad.mit.edu	37	2	73476983	73476983	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73476983C>A	uc002siz.2	+	9	1111	c.1009C>A	c.(1009-1011)CTG>ATG	p.L337M	CCT7_uc002sja.2_Missense_Mutation_p.L133M|CCT7_uc010yrf.1_Missense_Mutation_p.L293M|CCT7_uc010feu.2_Missense_Mutation_p.L295M|CCT7_uc010yrg.1_Missense_Mutation_p.L237M|CCT7_uc010yrh.1_Missense_Mutation_p.L209M|CCT7_uc010yri.1_Missense_Mutation_p.L250M	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	337					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						TGTGAATGCTCTGTCAGCAGA	0.597												
EGR4	1961	broad.mit.edu	37	2	73518762	73518762	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73518762G>A	uc010yrj.1	-	2	1668	c.1593C>T	c.(1591-1593)CAC>CAT	p.H531H	EGR4_uc010yrk.1_Silent_p.H530H	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	427						intracellular	nucleic acid binding|zinc ion binding				0						GGGTGCGCACGTGCGTGGTGA	0.647												
TET3	200424	broad.mit.edu	37	2	74327960	74327960	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74327960G>A	uc002skb.3	+	9	3640	c.3640G>A	c.(3640-3642)GCC>ACC	p.A1214T		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1214							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TCCCACAGACGCCCACCACCC	0.647												
DCTN1	1639	broad.mit.edu	37	2	74596537	74596537	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74596537C>A	uc002skx.2	-	14	1785	c.1474G>T	c.(1474-1476)GCA>TCA	p.A492S	DCTN1_uc002skv.2_Missense_Mutation_p.A358S|DCTN1_uc002sku.2_Missense_Mutation_p.A358S|DCTN1_uc002skw.1_Missense_Mutation_p.A468S|DCTN1_uc010ffd.2_Missense_Mutation_p.A472S|DCTN1_uc002sky.2_Missense_Mutation_p.A455S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	492	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						CGCGCGCCTGCCATGTCCAGC	0.597												
MOGS	7841	broad.mit.edu	37	2	74689868	74689868	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74689868G>A	uc010ffj.2	-	4	1211	c.1048C>T	c.(1048-1050)CCA>TCA	p.P350S	MOGS_uc010ffh.2_Missense_Mutation_p.P75S|MOGS_uc010yrt.1_Missense_Mutation_p.P231S|MOGS_uc010ffi.2_Missense_Mutation_p.P244S	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	350	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GCCAGTCTTGGCAGGGCTTGA	0.537												
DQX1	165545	broad.mit.edu	37	2	74746315	74746315	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74746315T>G	uc010yrw.1	-	11	2014	c.1849A>C	c.(1849-1851)ACC>CCC	p.T617P	DQX1_uc002smc.2_Missense_Mutation_p.T178P	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	617						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						TGCTTATGGGTTAGGAGAAGG	0.507												
LRRTM4	80059	broad.mit.edu	37	2	77746550	77746550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:77746550G>A	uc002snr.2	-	3	860	c.445C>T	c.(445-447)CAA>TAA	p.Q149*	LRRTM4_uc002snq.2_Nonsense_Mutation_p.Q149*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.Q149*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.Q150*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	149	LRR 4.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TGTTCAGATTGCAATGTCTGA	0.393												
POLR1A	25885	broad.mit.edu	37	2	86255759	86255759	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:86255759G>A	uc002sqs.2	-	32	5234	c.4855C>T	c.(4855-4857)CGG>TGG	p.R1619W	POLR1A_uc010ytb.1_Missense_Mutation_p.R985W	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1619					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCGATCACCCGCAGCGCGGCC	0.572												
ASTL	431705	broad.mit.edu	37	2	96801118	96801118	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96801118A>C	uc010yui.1	-	3	215	c.215T>G	c.(214-216)TTC>TGC	p.F72C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	72					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CTCGATGAGGAAGCTGCTCTC	0.607												
SNRNP200	23020	broad.mit.edu	37	2	96945221	96945221	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96945221G>A	uc002svu.2	-	36	5187	c.5101C>T	c.(5101-5103)CGC>TGC	p.R1701C	SNRNP200_uc002svt.2_Missense_Mutation_p.R311C|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1701	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						ATGACACAGCGCCCCTCATCG	0.517												
SNRNP200	23020	broad.mit.edu	37	2	96956165	96956165	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96956165A>G	uc002svu.2	-	20	2727	c.2641T>C	c.(2641-2643)TCC>CCC	p.S881P	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	881	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TTGAGGAGGGACAGGTAGTAC	0.483												
KIAA1310	55683	broad.mit.edu	37	2	97268532	97268532	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:97268532G>T	uc002swn.3	-	18	2363	c.2217C>A	c.(2215-2217)ACC>ACA	p.T739T	KIAA1310_uc002swh.3_Silent_p.T625T|KIAA1310_uc002swi.3_Silent_p.T666T|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Silent_p.T652T|KIAA1310_uc010fhz.2_Silent_p.T559T|KIAA1310_uc002swl.3_Silent_p.T638T|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Silent_p.T533T|KIAA1310_uc002swo.2_Silent_p.T87T	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	765	Ser-rich.										0						GAAGGCCAGAGGTCTTGCTGC	0.592												
KIAA1310	55683	broad.mit.edu	37	2	97285224	97285224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:97285224G>A	uc002swn.3	-	5	681	c.535C>T	c.(535-537)CGG>TGG	p.R179W	KIAA1310_uc002swh.3_Missense_Mutation_p.R67W|KIAA1310_uc002swi.3_Missense_Mutation_p.R80W|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R92W|KIAA1310_uc010fhz.2_5'UTR|KIAA1310_uc002swl.3_Missense_Mutation_p.R80W|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.R80W|KIAA1310_uc002swq.1_5'UTR|KIAA1310_uc010fhy.1_Missense_Mutation_p.R80W	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	179											0						AGAGCCTGCCGCACTCTCCTT	0.547												
TMEM131	23505	broad.mit.edu	37	2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:98409946G>A	uc002syh.3	-	30	3686	c.3457C>T	c.(3457-3459)CGG>TGG	p.R1153W		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1153						integral to membrane				ovary(4)|central_nervous_system(2)	6						AAGGATAGCCGCCTTCGAAAT	0.453												
VWA3B	200403	broad.mit.edu	37	2	98914470	98914470	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:98914470C>T	uc002syo.2	+	24	3522	c.3258C>T	c.(3256-3258)GGC>GGT	p.G1086G	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.G743G|VWA3B_uc002syp.1_Silent_p.G478G|VWA3B_uc002syq.1_Silent_p.G362G|VWA3B_uc002syr.1_Silent_p.G403G|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1086										ovary(3)|large_intestine(2)|skin(1)	6						CTGTGGGGGGCGCCATGCCCT	0.592												
GPR45	11250	broad.mit.edu	37	2	105858511	105858511	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:105858511C>T	uc002tco.1	+	1	312	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	66	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GCCGGCTATGCGCTCGGCCAT	0.617												
EDAR	10913	broad.mit.edu	37	2	109513587	109513587	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:109513587G>A	uc002teq.3	-	12	1554	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	EDAR_uc010fjn.2_Missense_Mutation_p.R407C|EDAR_uc010yws.1_Missense_Mutation_p.R407C	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	375	Death.|Cytoplasmic (Potential).		R -> H (in EDA; the mutant protein does not interact with EDARADD and is functionally inactive).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						GCGAGGTGGCGCCACGTTTTC	0.567												
ANAPC1	64682	broad.mit.edu	37	2	112545863	112545863	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:112545863C>T	uc002thi.2	-	39	4994	c.4747G>A	c.(4747-4749)GCT>ACT	p.A1583T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1583					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						CAGAGAAGAGCGGCAATGGAA	0.423												
TMEM87B	84910	broad.mit.edu	37	2	112847268	112847268	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:112847268T>G	uc002thm.2	+	10	1374	c.1005T>G	c.(1003-1005)GCT>GCG	p.A335A		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	335	Helical; (Potential).					integral to membrane					0						TCTTTGCAGCTGTTGAAGGCG	0.433												
IL1A	3552	broad.mit.edu	37	2	113539199	113539199	+	Missense_Mutation	SNP	C	C	T	rs143855190		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:113539199C>T	uc002tig.2	-	4	1261	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	101					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						GAGTCATTGGCGATGGCCTCC	0.438												
CNTNAP5	129684	broad.mit.edu	37	2	125504877	125504877	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:125504877G>A	uc002tno.2	+	14	2510	c.2146G>A	c.(2146-2148)GGG>AGG	p.G716R	CNTNAP5_uc010flu.2_Missense_Mutation_p.G717R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	716	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCCCTCCTGGGGTCCAGCA	0.527												
MAP3K2	10746	broad.mit.edu	37	2	128079649	128079649	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128079649C>T	uc002toj.1	-	11	1083	c.1018G>A	c.(1018-1020)GTA>ATA	p.V340I		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	340					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATGTCCATTACGGTCAAAGTA	0.378												
LIMS2	55679	broad.mit.edu	37	2	128398501	128398501	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128398501G>T	uc002tpa.2	-	7	889	c.723C>A	c.(721-723)GGC>GGA	p.G241G	LIMS2_uc002tou.2_Silent_p.G49G|LIMS2_uc002tov.2_Silent_p.G89G|LIMS2_uc002tow.2_Silent_p.G89G|LIMS2_uc002tox.2_Silent_p.G265G|LIMS2_uc010fmb.2_Silent_p.G151G|LIMS2_uc002toy.2_Silent_p.G236G|LIMS2_uc010yzm.1_Silent_p.G263G|LIMS2_uc002toz.2_Silent_p.G236G|LIMS2_uc002tpb.2_Silent_p.G236G	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	241	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AGTAGGCCAGGCCCTTCTTCT	0.622												
POTEE	445582	broad.mit.edu	37	2	132021845	132021845	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:132021845C>A	uc002tsn.2	+	15	2869	c.2817C>A	c.(2815-2817)AGC>AGA	p.S939R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S539R|POTEE_uc002tsl.2_Missense_Mutation_p.S521R|POTEE_uc010fmy.1_Missense_Mutation_p.S403R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	939	Actin-like.						ATP binding				0						TAGAGAAGAGCTACGAGCTGC	0.612												
ACMSD	130013	broad.mit.edu	37	2	135620998	135620998	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:135620998C>A	uc002ttz.2	+	5	350	c.283C>A	c.(283-285)CTT>ATT	p.L95I	ACMSD_uc002tua.2_Missense_Mutation_p.L37I	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	95					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTGTGCCAGCTTTTAAACAA	0.527												
LCT	3938	broad.mit.edu	37	2	136570016	136570016	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:136570016A>G	uc002tuu.1	-	7	2229	c.2218T>C	c.(2218-2220)TCC>CCC	p.S740P		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	740	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATTCCAGGGATACAAACTGC	0.493												
THSD7B	80731	broad.mit.edu	37	2	137988667	137988667	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:137988667T>C	uc002tva.1	+	7	1684	c.1684T>C	c.(1684-1686)TCT>CCT	p.S562P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S452P	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)		TGAGAGGAAGTCTTGTGAAAT	0.473												
LRP1B	53353	broad.mit.edu	37	2	141108494	141108494	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141108494T>G	uc002tvj.1	-	77	12736	c.11764A>C	c.(11764-11766)AGA>CGA	p.R3922R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3922	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGTTATTCTTGAATTATGT	0.343										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141202174	141202174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141202174C>A	uc002tvj.1	-	64	11104	c.10132G>T	c.(10132-10134)GGA>TGA	p.G3378*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3378	Extracellular (Potential).|LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATTCTCTCCATCACAGATG	0.403										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141259341	141259341	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141259341T>G	uc002tvj.1	-	55	9737	c.8765A>C	c.(8764-8766)GAG>GCG	p.E2922A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2922	Extracellular (Potential).|LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTTCTCTCATCTGAACC	0.418										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141747221	141747221	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141747221G>T	uc002tvj.1	-	17	3622	c.2650C>A	c.(2650-2652)CAT>AAT	p.H884N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	884	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGACAGCTATGATTGACTGGG	0.368										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145156636	145156636	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:145156636T>C	uc002tvu.2	-	8	2598	c.2118A>G	c.(2116-2118)CCA>CCG	p.P706P	ZEB2_uc002tvv.2_Silent_p.P700P|ZEB2_uc010zbm.1_Silent_p.P677P|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.P735P	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	706						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)		TTTCCAGGGATGGGGACCTGG	0.453												
RND3	390	broad.mit.edu	37	2	151326681	151326681	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:151326681G>A	uc002txe.2	-	5	799	c.555C>T	c.(553-555)AGC>AGT	p.S185S	RND3_uc002txf.2_Silent_p.S184S|RND3_uc002txg.2_Silent_p.S185S|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Silent_p.S48S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	185					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTCTCTGACGCTATTTTCCG	0.418												
NEB	4703	broad.mit.edu	37	2	152482152	152482152	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152482152G>A	uc010fnx.2	-	67	9810	c.9619C>T	c.(9619-9621)CGC>TGC	p.R3207C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3207	Nebulin 87.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATAAGCGCTGTGAAGGA	0.358												
NEB	4703	broad.mit.edu	37	2	152522696	152522696	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152522696C>T	uc010fnx.2	-	41	5130	c.4939G>A	c.(4939-4941)GCC>ACC	p.A1647T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1647	Nebulin 42.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTAGTTGGCGTTGGTGGCA	0.498												
GPD2	2820	broad.mit.edu	37	2	157439405	157439405	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:157439405T>C	uc002tzf.3	+	17	2519	c.2159T>C	c.(2158-2160)GTG>GCG	p.V720A	GPD2_uc010zch.1_Missense_Mutation_p.V493A|GPD2_uc002tzd.3_Missense_Mutation_p.V720A|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	720					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						CCAATTCCAGTGGACCGTAGT	0.443												
TANC1	85461	broad.mit.edu	37	2	160035080	160035080	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:160035080C>T	uc002uag.2	+	14	2190	c.1916C>T	c.(1915-1917)GCG>GTG	p.A639V	TANC1_uc010fol.1_Missense_Mutation_p.A533V|TANC1_uc010zcm.1_Missense_Mutation_p.A631V|TANC1_uc010fom.1_Missense_Mutation_p.A445V|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	639						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						ATCATAAGTGCGCTGCCATTT	0.443												
CSRNP3	80034	broad.mit.edu	37	2	166535748	166535748	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166535748G>A	uc002udf.2	+	7	1619	c.1243G>A	c.(1243-1245)GGC>AGC	p.G415S	CSRNP3_uc002udg.2_Missense_Mutation_p.G415S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	415					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TTATTCTGATGGCACCGCCGT	0.433												
SCN1A	6323	broad.mit.edu	37	2	166909417	166909417	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166909417C>T	uc010zcz.1	-	5	657	c.639G>A	c.(637-639)TCG>TCA	p.S213S	SCN1A_uc002udo.3_Silent_p.S82S|SCN1A_uc010fpk.2_Silent_p.S82S	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	213	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCTCAATGCCGAGACATTGC	0.438												
XIRP2	129446	broad.mit.edu	37	2	168102667	168102667	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:168102667A>C	uc002udx.2	+	8	4783	c.4765A>C	c.(4765-4767)AAC>CAC	p.N1589H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1414H|XIRP2_uc010fpq.2_Missense_Mutation_p.N1367H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1414					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAGCTAATGAACCAAGCATC	0.388												
PPIG	9360	broad.mit.edu	37	2	170493811	170493811	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:170493811G>T	uc002uez.2	+	14	2263	c.2043G>T	c.(2041-2043)AAG>AAT	p.K681N	PPIG_uc010fpx.2_Missense_Mutation_p.K666N|PPIG_uc010fpy.2_Missense_Mutation_p.K674N|PPIG_uc002ufb.2_Missense_Mutation_p.K681N|PPIG_uc002ufd.2_Missense_Mutation_p.K678N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	681					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	GGGAAAAAAAGGCTGATAGAG	0.353												
WIPF1	7456	broad.mit.edu	37	2	175436932	175436932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:175436932G>A	uc002uiy.2	-	6	933	c.601C>T	c.(601-603)CGG>TGG	p.R201W	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201W|WIPF1_uc010fqt.1_Missense_Mutation_p.R201W|WIPF1_uc002ujc.1_Missense_Mutation_p.R201W|WIPF1_uc002uiz.2_Missense_Mutation_p.R201W|WIPF1_uc002ujb.1_Missense_Mutation_p.R201W|WIPF1_uc010zep.1_Missense_Mutation_p.R201W	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGGGACCCCCGGTTGTGCGGA	0.657												
MTX2	10651	broad.mit.edu	37	2	177134392	177134392	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:177134392T>C	uc002ukx.2	+	1	270	c.35T>C	c.(34-36)ATT>ACT	p.I12T	MTX2_uc002ukw.2_5'UTR	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	12					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			GTCTCCCAGATTGCAGGTAGC	0.706												
PRKRA	8575	broad.mit.edu	37	2	179296888	179296888	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179296888T>G	uc002umf.2	-	8	1079	c.878A>C	c.(877-879)AAT>ACT	p.N293T	PRKRA_uc002umc.2_Missense_Mutation_p.N125T|PRKRA_uc002umd.2_Missense_Mutation_p.N268T|PRKRA_uc002ume.2_Missense_Mutation_p.N282T|PRKRA_uc002umg.2_Missense_Mutation_p.N180T|uc002umb.1_Intron|PRKRA_uc002umh.1_RNA	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	293	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTTTGTGCATTGCCACAGGA	0.418												
TTN	7273	broad.mit.edu	37	2	179471853	179471853	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179471853C>A	uc010zfg.1	-	227	45996	c.45772G>T	c.(45772-45774)GGT>TGT	p.G15258C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8953C|TTN_uc010zfi.1_Missense_Mutation_p.G8886C|TTN_uc010zfj.1_Missense_Mutation_p.G8761C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16185							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)			TCAAGCAGACCTGTGATGTCA	0.413												
TTN	7273	broad.mit.edu	37	2	179546140	179546140	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179546140C>T	uc010zfg.1	-	134	29702	c.29478G>A	c.(29476-29478)GTG>GTA	p.V9826V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6487V|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10753							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)			TAGGAATGGGCACTGGTACTT	0.343												
TTN	7273	broad.mit.edu	37	2	179591924	179591924	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179591924G>T	uc010zfg.1	-	66	16660	c.16436C>A	c.(16435-16437)GCC>GAC	p.A5479D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2140D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6406							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)			CTGTATGACGGCCACTGAGTC	0.453												
TTN	7273	broad.mit.edu	37	2	179611032	179611032	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179611032T>G	uc002unb.2	-	46	16319	c.16095A>C	c.(16093-16095)GAA>GAC	p.E5365D	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTTTGTCTTCTCCCTCCC	0.328												
ITGA4	3676	broad.mit.edu	37	2	182323028	182323028	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:182323028C>T	uc002unu.2	+	2	1066	c.303C>T	c.(301-303)TGC>TGT	p.C101C	ITGA4_uc002unt.2_Silent_p.C101C|ITGA4_uc010zfl.1_Silent_p.C101C	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	101	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCCAGACGTGCGAACAGCTCC	0.587												
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	A	rs150716378	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:182784139G>A	uc002uoi.2	+	14	3432	c.3110G>A	c.(3109-3111)CGC>CAC	p.R1037H	SSFA2_uc002uoh.2_Missense_Mutation_p.R1037H|SSFA2_uc002uoj.2_Missense_Mutation_p.R1037H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R884H|SSFA2_uc002uol.2_Missense_Mutation_p.R884H|SSFA2_uc002uom.2_Missense_Mutation_p.R505H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1037	Potential.					cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532												
COL5A2	1290	broad.mit.edu	37	2	189917496	189917496	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:189917496A>G	uc002uqk.2	-	40	2969	c.2694T>C	c.(2692-2694)GGT>GGC	p.G898G	COL5A2_uc010frx.2_Silent_p.G474G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	898					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTTCCTCGACCACCTTTTA	0.418												
ALS2CR4	65062	broad.mit.edu	37	2	202496851	202496851	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:202496851G>T	uc002uyh.1	-	8	577	c.476C>A	c.(475-477)ACT>AAT	p.T159N	ALS2CR4_uc002uyg.1_Missense_Mutation_p.T151N|ALS2CR4_uc010zho.1_Translation_Start_Site|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	183						integral to membrane	protein binding				0						CTGTTCCACAGTAGTTTGCTC	0.428												
NRP2	8828	broad.mit.edu	37	2	206610590	206610590	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:206610590G>A	uc002vaw.2	+	10	2553	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	NRP2_uc002vau.2_Missense_Mutation_p.E588K|NRP2_uc002vav.2_Missense_Mutation_p.E588K|NRP2_uc002vax.2_Missense_Mutation_p.E588K|NRP2_uc002vay.2_Missense_Mutation_p.E588K	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	588	Extracellular (Potential).|F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GATGCGGCTGGAGGTGCTGGG	0.602												
MDH1B	130752	broad.mit.edu	37	2	207619965	207619965	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:207619965C>A	uc002vbs.2	-	5	733	c.678G>T	c.(676-678)GAG>GAT	p.E226D	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.E226D|MDH1B_uc010fuj.2_Missense_Mutation_p.E128D|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	226					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GGAGGCAGTCCTCCAGAGTGA	0.567												
CRYGA	1418	broad.mit.edu	37	2	209028137	209028137	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:209028137G>A	uc002vcq.3	-	2	60	c.43C>T	c.(43-45)CGC>TGC	p.R15C		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	15	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TTGTAGCAGCGACCCTGAAAG	0.552												
ATIC	471	broad.mit.edu	37	2	216197139	216197139	+	Silent	SNP	C	C	T	rs143393493	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:216197139C>T	uc002vex.3	+	8	897	c.723C>T	c.(721-723)TGC>TGT	p.C241C	ATIC_uc010zjo.1_Silent_p.C182C|ATIC_uc002vey.3_Silent_p.C240C	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	241					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TAAACTTGTGCGATGCTTTGA	0.448			T	ALK	ALCL							
VIL1	7429	broad.mit.edu	37	2	219299403	219299403	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:219299403C>T	uc002via.2	+	14	1720	c.1655C>T	c.(1654-1656)TCT>TTT	p.S552F	VIL1_uc010zke.1_Missense_Mutation_p.S241F|VIL1_uc002vib.2_Missense_Mutation_p.S552F	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	552	Gelsolin-like 5.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGACCCAGTCTTGCTGCTAT	0.577												
WNT10A	80326	broad.mit.edu	37	2	219746928	219746928	+	Silent	SNP	C	C	T	rs143421847		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:219746928C>T	uc002vjd.1	+	2	622	c.159C>T	c.(157-159)CCC>CCT	p.P53P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	53					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGAGCCCGTGCTCAATG	0.622												
STK16	8576	broad.mit.edu	37	2	220111501	220111501	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:220111501G>A	uc002vko.2	+	3	366	c.209G>A	c.(208-210)CGC>CAC	p.R70H	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.R70H|STK16_uc010fwf.2_Missense_Mutation_p.R70H|STK16_uc002vkp.2_Missense_Mutation_p.R70H|STK16_uc002vkr.2_Missense_Mutation_p.R3H|STK16_uc002vkq.2_Missense_Mutation_p.R115H	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	70	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACATGCATCGCCTCTTCAAT	0.577												
DES	1674	broad.mit.edu	37	2	220286144	220286144	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:220286144G>A	uc002vll.2	+	6	1192	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	369	Rod.|Coil 2B.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AACATTGCGCGCCTGGAGGAG	0.587												
EPHA4	2043	broad.mit.edu	37	2	222290845	222290845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:222290845C>T	uc002vmq.2	-	17	2906	c.2864G>A	c.(2863-2865)GGT>GAT	p.G955D	EPHA4_uc002vmr.2_3'UTR|EPHA4_uc010zlm.1_Missense_Mutation_p.G896D|EPHA4_uc010zln.1_Missense_Mutation_p.G955D	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	955	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGCTGTGATACCAATTCTTGC	0.502												
SPHKAP	80309	broad.mit.edu	37	2	228881852	228881852	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:228881852G>A	uc002vpq.2	-	7	3765	c.3718C>T	c.(3718-3720)CCA>TCA	p.P1240S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1240S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1240S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1240						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGCTGTCTGGCATGGACGAC	0.557												
SP100	6672	broad.mit.edu	37	2	231368993	231368993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:231368993C>T	uc002vqt.2	+	21	1999	c.1858C>T	c.(1858-1860)CGA>TGA	p.R620*	SP100_uc002vqs.2_Nonsense_Mutation_p.R620*|SP100_uc002vqu.1_Nonsense_Mutation_p.R620*|SP100_uc010fxp.1_5'UTR	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	620	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATAAGGAGCGATTCAAACA	0.393												
SAG	6295	broad.mit.edu	37	2	234240339	234240339	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:234240339G>A	uc002vuh.2	+	10	1175	c.787G>A	c.(787-789)GTG>ATG	p.V263M	SAG_uc010zmq.1_Missense_Mutation_p.V129M	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	263					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CGTCAAGCCCGTGGCTATGGA	0.552												
UGT1A5	54579	broad.mit.edu	37	2	234676936	234676936	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:234676936C>T	uc002vuw.2	+	4	1158	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	UGT1A8_uc010zmv.1_Silent_p.G382G|UGT1A8_uc002vup.2_Silent_p.G382G|UGT1A10_uc002vuq.3_Silent_p.G382G|UGT1A10_uc002vur.2_Silent_p.G382G|UGT1A9_uc010zmw.1_Silent_p.G382G|UGT1A9_uc002vus.2_Silent_p.G382G|UGT1A7_uc010zmx.1_Silent_p.G382G|UGT1A7_uc002vut.2_Silent_p.G382G|UGT1A6_uc002vuu.2_Silent_p.G117G|UGT1A6_uc010zmy.1_Silent_p.G384G|UGT1A6_uc002vuv.3_Silent_p.G384G|UGT1A5_uc010zmz.1_Silent_p.G386G|UGT1A4_uc010zna.1_Silent_p.G386G|UGT1A4_uc002vux.2_Silent_p.G386G|UGT1A3_uc010znb.1_Silent_p.G386G|UGT1A3_uc002vuy.2_Silent_p.G386G|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Silent_p.G385G|UGT1A1_uc002vvb.2_Silent_p.G385G	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	386					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TATGCAATGGCGTTCCCATGG	0.493												
SH3BP4	23677	broad.mit.edu	37	2	235951518	235951518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:235951518G>A	uc002vvp.2	+	4	2498	c.2105G>A	c.(2104-2106)TGG>TAG	p.W702*	SH3BP4_uc010fym.2_Nonsense_Mutation_p.W702*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.W702*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	702					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACCAAGGAGTGGTACATCGGC	0.667												
AGAP1	116987	broad.mit.edu	37	2	236957795	236957795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:236957795C>T	uc002vvs.2	+	16	2579	c.1984C>T	c.(1984-1986)CGA>TGA	p.R662*	AGAP1_uc002vvt.2_Nonsense_Mutation_p.R609*	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	662	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						TTCCCGAGTCCGATCTCTGGA	0.577												
HDLBP	3069	broad.mit.edu	37	2	242169080	242169080	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242169080T>C	uc002waz.2	-	28	3971	c.3743A>G	c.(3742-3744)GAG>GGG	p.E1248G	HDLBP_uc002wba.2_Missense_Mutation_p.E1248G|HDLBP_uc002wbb.2_Missense_Mutation_p.E1200G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1248					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGAAATTCCTCAGAGCTGCT	0.582												
HDLBP	3069	broad.mit.edu	37	2	242195733	242195733	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242195733C>T	uc002waz.2	-	7	967	c.739G>A	c.(739-741)GAG>AAG	p.E247K	HDLBP_uc002wba.2_Missense_Mutation_p.E247K|HDLBP_uc002wbb.2_Missense_Mutation_p.E268K|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	247	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCATGATCTCGCCAACCAGT	0.542												
GAL3ST2	64090	broad.mit.edu	37	2	242742942	242742942	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242742942C>T	uc002wcj.1	+	4	689	c.558C>T	c.(556-558)AAC>AAT	p.N186N		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	186	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		ACCTCAGGAACGTCTACGCCA	0.672												
ZNF343	79175	broad.mit.edu	37	20	2464233	2464233	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:2464233C>T	uc002wge.1	-	6	1862	c.1374G>A	c.(1372-1374)ACG>ACA	p.T458T	ZNF343_uc010gao.1_Silent_p.T458T|ZNF343_uc002wgd.1_Silent_p.T368T	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	458	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCCAGAGTGCGTCCGCTCGT	0.532												
TMC2	117532	broad.mit.edu	37	20	2593877	2593877	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:2593877C>T	uc002wgf.1	+	14	1796	c.1781C>T	c.(1780-1782)ACG>ATG	p.T594M	TMC2_uc002wgg.1_Missense_Mutation_p.T578M|TMC2_uc010zpw.1_Missense_Mutation_p.T426M|TMC2_uc010zpx.1_Missense_Mutation_p.T425M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	594	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						ATGCTGGTAACGTACATCACC	0.557												
ProSAPiP1	9762	broad.mit.edu	37	20	3145314	3145314	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:3145314C>T	uc002wia.1	-	3	3206	c.1808G>A	c.(1807-1809)CGC>CAC	p.R603H	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R557H	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	603	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CAGCCACACGCGGCGCTCCTC	0.711												
RNF24	11237	broad.mit.edu	37	20	3944542	3944542	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:3944542G>T	uc002wkh.2	-	2	393	c.123C>A	c.(121-123)CTC>CTA	p.L41L	RNF24_uc002wki.2_Silent_p.L62L|RNF24_uc002wkj.2_Silent_p.L41L	NM_007219	NP_009150	Q9Y225	RNF24_HUMAN	ring finger protein 24 isoform 1	41	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0						AGCAACAGAAGAGTAAACTAA	0.303												
PRND	23627	broad.mit.edu	37	20	4705463	4705463	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:4705463T>A	uc002wkz.2	+	2	337	c.266T>A	c.(265-267)ATC>AAC	p.I89N		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	89	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						CCCGATGGCATCCACTACAAC	0.592												
MCM8	84515	broad.mit.edu	37	20	5966634	5966634	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:5966634C>A	uc002wmi.2	+	16	2397	c.2020C>A	c.(2020-2022)CGG>AGG	p.R674R	MCM8_uc002wmj.2_Silent_p.R658R|MCM8_uc002wmk.2_Silent_p.R714R|MCM8_uc002wml.2_Silent_p.R674R|MCM8_uc010gbp.2_Silent_p.R627R|MCM8_uc002wmm.2_Silent_p.R212R	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	674					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TGGCTATGCTCGGCAGTATGT	0.463												
LRRN4	164312	broad.mit.edu	37	20	6022874	6022874	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6022874G>A	uc002wmo.2	-	5	1241	c.1017C>T	c.(1015-1017)TGC>TGT	p.C339C		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	339	Extracellular (Potential).					integral to membrane				skin(3)	3						CAGCTGGCGCGCACATAGTGT	0.622												
LRRN4	164312	broad.mit.edu	37	20	6031513	6031513	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6031513G>A	uc002wmo.2	-	3	996	c.772C>T	c.(772-774)CTG>TTG	p.L258L	LRRN4_uc002wmp.2_Silent_p.L258L	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	258	Extracellular (Potential).|LRR 9.					integral to membrane				skin(3)	3						TGACAGTCCAGCTGCTGCAGG	0.542												
FERMT1	55612	broad.mit.edu	37	20	6096554	6096554	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6096554G>A	uc002wmr.2	-	3	1078	c.289C>T	c.(289-291)CTG>TTG	p.L97L	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Silent_p.L97L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	97	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						CGAAGGCGCAGCATTTTATGC	0.483												
PLCB1	23236	broad.mit.edu	37	20	8678275	8678275	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:8678275G>A	uc002wnb.2	+	11	1015	c.1012G>A	c.(1012-1014)GGC>AGC	p.G338S	PLCB1_uc010zrb.1_Missense_Mutation_p.G237S|PLCB1_uc002wna.2_Missense_Mutation_p.G338S|PLCB1_uc002wnc.1_Missense_Mutation_p.G237S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	338	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTTTATAGCTGGCCAACTGGC	0.498												
PLCB1	23236	broad.mit.edu	37	20	8696934	8696934	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:8696934C>T	uc002wnb.2	+	13	1277	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	PLCB1_uc010zrb.1_Missense_Mutation_p.A324V|PLCB1_uc002wna.2_Missense_Mutation_p.A425V|PLCB1_uc002wnc.1_Missense_Mutation_p.A324V|PLCB1_uc002wnd.1_Missense_Mutation_p.A2V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	425	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GCCAAGATGGCGGAGTACTGC	0.468												
PLCB4	5332	broad.mit.edu	37	20	9368189	9368189	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:9368189G>T	uc002wnf.2	+	14	1280	c.1144G>T	c.(1144-1146)GAT>TAT	p.D382Y	PLCB4_uc010gbw.1_Missense_Mutation_p.D382Y|PLCB4_uc010gbx.2_Missense_Mutation_p.D382Y|PLCB4_uc002wne.2_Missense_Mutation_p.D382Y|PLCB4_uc002wnh.2_Missense_Mutation_p.D229Y	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	382	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AATGTGTACAGATATCCTTTT	0.348												
RBBP9	10741	broad.mit.edu	37	20	18470617	18470617	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:18470617A>G	uc002wqy.2	-	5	428	c.352T>C	c.(352-354)TGG>CGG	p.W118R		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	118						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCCCACTGCCAGGGGCGGGTG	0.483												
SLC24A3	57419	broad.mit.edu	37	20	19496186	19496186	+	Missense_Mutation	SNP	C	C	T	rs144636987		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:19496186C>T	uc002wrl.2	+	3	523	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	109	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AGACAAGGTGCGGTGGTCCTC	0.542												
C20orf26	26074	broad.mit.edu	37	20	20243636	20243636	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:20243636C>A	uc002wru.2	+	21	2441	c.2365C>A	c.(2365-2367)CTG>ATG	p.L789M	C20orf26_uc010zse.1_Missense_Mutation_p.L769M|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.L145M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	789										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TAGTCAACACCTGACAAACAG	0.458												
NKX2-4	644524	broad.mit.edu	37	20	21377059	21377059	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:21377059T>C	uc010gcz.2	-	2	565	c.555A>G	c.(553-555)GCA>GCG	p.A185A		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	185	Poly-Ala.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGGAGCGGCTGCCGCCGCCG	0.736												
NKX2-4	644524	broad.mit.edu	37	20	21377937	21377937	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:21377937G>A	uc010gcz.2	-	1	111	c.101C>T	c.(100-102)GCG>GTG	p.A34V		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						gccgggtggcgcgccgTCCAT	0.512												
THBD	7056	broad.mit.edu	37	20	23028480	23028480	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (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)	AAGGGGCCGCGCACTTGTACT	0.682												
CD93	22918	broad.mit.edu	37	20	23065616	23065616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:23065616C>T	uc002wsv.2	-	1	1362	c.1214G>A	c.(1213-1215)GGC>GAC	p.G405D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	405	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGAAATGAGCCATCTGTGTT	0.672												
PYGB	5834	broad.mit.edu	37	20	25277134	25277134	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:25277134G>A	uc002wup.2	+	20	2617	c.2508G>A	c.(2506-2508)CCG>CCA	p.P836P	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	836				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGCAGATCCCGCCCCCCAACA	0.602												
BPIL3	128859	broad.mit.edu	37	20	31622664	31622664	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:31622664A>C	uc010zuc.1	+	4	398	c.398A>C	c.(397-399)AAG>ACG	p.K133T	BPIL3_uc010zud.1_Missense_Mutation_p.K72T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	133						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CCCGTGTTCAAGAGTGAGGGC	0.572												
C20orf186	149954	broad.mit.edu	37	20	31671497	31671497	+	Missense_Mutation	SNP	C	C	T	rs143050216	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:31671497C>T	uc010zue.1	+	3	509	c.494C>T	c.(493-495)GCG>GTG	p.A165V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	165	Gly-rich.					cytoplasm|extracellular region	lipid binding				0						GCCACTGGGGCGGTGGGCCCA	0.677												
E2F1	1869	broad.mit.edu	37	20	32266038	32266038	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:32266038G>A	uc002wzu.3	-	4	834	c.694C>T	c.(694-696)CGC>TGC	p.R232C		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	232	Dimerization (Potential).|Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						GAGAGCAGGCGCAGCTGCGTA	0.597												
PXMP4	11264	broad.mit.edu	37	20	32298462	32298462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:32298462G>A	uc002wzv.2	-	3	397	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Silent_p.C98C	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	92						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						ATGTAGGACTGCAGGGCACGG	0.552												
MMP24	10893	broad.mit.edu	37	20	33851679	33851679	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:33851679G>A	uc002xbu.2	+	5	906	c.903G>A	c.(901-903)GCG>GCA	p.A301A	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	301	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCATCATGGCGCCCTTCTACC	0.622												
CEP250	11190	broad.mit.edu	37	20	34099444	34099444	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34099444G>A	uc002xcm.2	+	36	7989	c.7318G>A	c.(7318-7320)GCC>ACC	p.A2440T	CEP250_uc010zve.1_Missense_Mutation_p.A1808T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2440					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACCCAAGCCGCCTCCAGGTA	0.612												
C20orf4	25980	broad.mit.edu	37	20	34832708	34832708	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34832708C>A	uc002xfc.1	+	3	940	c.847C>A	c.(847-849)CGG>AGG	p.R283R	C20orf4_uc002xfd.1_Silent_p.R283R|C20orf4_uc002xfe.1_Silent_p.R283R	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	283											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CCTCCTGTGCCGGTCAGAAGC	0.532												
C20orf4	25980	broad.mit.edu	37	20	34843569	34843569	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34843569G>A	uc002xfc.1	+	4	1150	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	C20orf4_uc002xfd.1_Intron|C20orf4_uc002xfe.1_Missense_Mutation_p.A353T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	353											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AAAGTTCCAAGCTCACCTGAC	0.542												
PPP1R16B	26051	broad.mit.edu	37	20	37546809	37546809	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37546809C>T	uc002xje.2	+	11	1393	c.1204C>T	c.(1204-1206)CTG>TTG	p.L402L	PPP1R16B_uc010ggc.2_Silent_p.L360L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	402					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAACCCCAGGCTGGAGAAGCC	0.502												
PPP1R16B	26051	broad.mit.edu	37	20	37546995	37546995	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37546995G>A	uc002xje.2	+	11	1579	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N	PPP1R16B_uc010ggc.2_Missense_Mutation_p.D422N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	464					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGGCGTGGCCGACGCCACCCC	0.642												
DHX35	60625	broad.mit.edu	37	20	37632521	37632521	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37632521T>C	uc002xjh.2	+	11	993	c.982T>C	c.(982-984)TTT>CTT	p.F328L	DHX35_uc010zwa.1_Missense_Mutation_p.F173L|DHX35_uc010zwb.1_Missense_Mutation_p.F173L|DHX35_uc010zwc.1_Missense_Mutation_p.F297L	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	328	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AATGAAAGTGTTTGAAAGGGT	0.488												
MAFB	9935	broad.mit.edu	37	20	39317182	39317182	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:39317182C>T	uc002xji.2	-	1	695	c.309G>A	c.(307-309)ACG>ACA	p.T103T		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	103					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGTCCTCGGGCGTCAGGTTGA	0.577			T	IGH@	MM							
CHD6	84181	broad.mit.edu	37	20	40068644	40068644	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40068644C>T	uc002xka.1	-	26	4181	c.4003G>A	c.(4003-4005)GAA>AAA	p.E1335K	CHD6_uc002xkb.1_Missense_Mutation_p.E101K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1335					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCTCACCTTTCAGGAATGTCT	0.522												
PTPRT	11122	broad.mit.edu	37	20	40713420	40713420	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40713420C>T	uc002xkg.2	-	29	4222	c.4038G>A	c.(4036-4038)ACG>ACA	p.T1346T	PTPRT_uc010ggj.2_Silent_p.T1365T|PTPRT_uc010ggi.2_Silent_p.T549T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1346	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		T -> M (in some colorectal cancers; reduced phosphatase activity).		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)				TGGAGGGGGGCGTGTCCCGGT	0.592												
PTPRT	11122	broad.mit.edu	37	20	40730848	40730848	+	Silent	SNP	G	G	A	rs35010609		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40730848G>A	uc002xkg.2	-	26	3814	c.3630C>T	c.(3628-3630)GAC>GAT	p.D1210D	PTPRT_uc010ggj.2_Silent_p.D1229D|PTPRT_uc010ggi.2_Silent_p.D413D	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1210	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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)				GAGGCAGCACGTCCATACTTC	0.587												
KCNK15	60598	broad.mit.edu	37	20	43379275	43379275	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43379275G>A	uc002xmr.2	+	2	853	c.789G>A	c.(787-789)CCG>CCA	p.P263P		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	263	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCCCCAgcccgcgccccccgg	0.637												
MATN4	8785	broad.mit.edu	37	20	43927120	43927120	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43927120C>A	uc002xnn.2	-	7	1303	c.1116G>T	c.(1114-1116)GTG>GTT	p.V372V	MATN4_uc002xno.2_Silent_p.V331V|MATN4_uc002xnp.2_Silent_p.V290V|MATN4_uc010zwr.1_Silent_p.V320V|MATN4_uc002xnr.1_Silent_p.V372V	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	413	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTAGGAAGTCCACAATCTGGT	0.627												
MATN4	8785	broad.mit.edu	37	20	43933374	43933374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43933374C>T	uc002xnn.2	-	3	324	c.137G>A	c.(136-138)CGC>CAC	p.R46H	MATN4_uc002xno.2_Missense_Mutation_p.R46H|MATN4_uc002xnp.2_Missense_Mutation_p.R46H|MATN4_uc010zwr.1_5'UTR|MATN4_uc002xnr.1_Missense_Mutation_p.R46H|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	46	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTCGAAAGGGCGCACGCTGCG	0.632												
PCIF1	63935	broad.mit.edu	37	20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:44576240C>T	uc002xqs.2	+	17	2275	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	PCIF1_uc002xqt.2_Silent_p.G262G|PCIF1_uc002xqu.2_Missense_Mutation_p.A123V	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	654						nucleus				skin(1)	1						GCCAAGTGGGCGCCGACGCCT	0.622												
ZNF334	55713	broad.mit.edu	37	20	45131398	45131398	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:45131398C>T	uc002xsc.2	-	5	764	c.580G>A	c.(580-582)GAA>AAA	p.E194K	ZNF334_uc002xsa.2_Missense_Mutation_p.E217K|ZNF334_uc002xsb.2_Missense_Mutation_p.E156K|ZNF334_uc002xsd.2_Missense_Mutation_p.E156K|ZNF334_uc010ghl.2_Missense_Mutation_p.E193K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATAAGATTTTCGTTTTGATTG	0.363												
NCOA3	8202	broad.mit.edu	37	20	46268496	46268496	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:46268496G>A	uc002xtk.2	+	15	3088	c.2883G>A	c.(2881-2883)TTG>TTA	p.L961L	NCOA3_uc010ght.1_Silent_p.L956L|NCOA3_uc002xtl.2_Silent_p.L961L|NCOA3_uc002xtm.2_Silent_p.L961L|NCOA3_uc002xtn.2_Silent_p.L961L|NCOA3_uc010zyc.1_Silent_p.L756L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	961					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TTCCCACATTGCCTCTTCGGT	0.473												
ZNFX1	57169	broad.mit.edu	37	20	47866123	47866123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:47866123G>T	uc002xui.2	-	14	3685	c.3438C>A	c.(3436-3438)TGC>TGA	p.C1146*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1146							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTATTCCTGGCACAGGAAGT	0.512												
B4GALT5	9334	broad.mit.edu	37	20	48257081	48257081	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:48257081C>T	uc002xuu.3	-	6	922	c.728G>A	c.(727-729)CGC>CAC	p.R243H		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	243	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ATAATAGTTGCGATCACTTTC	0.383												
NFATC2	4773	broad.mit.edu	37	20	50139752	50139752	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50139752C>T	uc002xwd.2	-	2	1248	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	NFATC2_uc002xwc.2_Missense_Mutation_p.R343H|NFATC2_uc010zyv.1_Missense_Mutation_p.R124H|NFATC2_uc010zyw.1_Missense_Mutation_p.R124H|NFATC2_uc010zyx.1_Missense_Mutation_p.R323H|NFATC2_uc010zyy.1_Missense_Mutation_p.R124H|NFATC2_uc010zyz.1_Missense_Mutation_p.R124H|NFATC2_uc002xwe.2_Missense_Mutation_p.R323H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	343					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GTAGATGTGGCGAGGCAGGCC	0.682												
SALL4	57167	broad.mit.edu	37	20	50407649	50407649	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50407649G>A	uc002xwh.3	-	2	1474	c.1373C>T	c.(1372-1374)GCA>GTA	p.A458V	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TACAGAGAGTGCATAGGGGAT	0.532												
ZFP64	55734	broad.mit.edu	37	20	50701394	50701394	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50701394C>A	uc002xwk.2	-	9	1989	c.1640G>T	c.(1639-1641)AGG>ATG	p.R547M	ZFP64_uc002xwj.2_Missense_Mutation_p.R328M	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCCTCGTCCCTGTGCACCTT	0.632												
ZFP64	55734	broad.mit.edu	37	20	50776842	50776842	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50776842G>A	uc002xwl.2	-	5	932	c.583C>T	c.(583-585)CGG>TGG	p.R195W	ZFP64_uc002xwk.2_Missense_Mutation_p.R195W|ZFP64_uc002xwm.2_Missense_Mutation_p.R193W|ZFP64_uc002xwn.2_Missense_Mutation_p.R141W	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	195	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GTGTGGCACCGCATGTGAGTT	0.537												
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:56138777G>A	uc002xyn.3	+	6	1118	c.955G>A	c.(955-957)GCA>ACA	p.A319T	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542												
ZBP1	81030	broad.mit.edu	37	20	56190060	56190060	+	Missense_Mutation	SNP	C	C	T	rs141977359		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:56190060C>T	uc002xyo.2	-	4	666	c.385G>A	c.(385-387)GCC>ACC	p.A129T	ZBP1_uc010gjm.2_Missense_Mutation_p.A129T|ZBP1_uc002xyp.2_Missense_Mutation_p.A54T|ZBP1_uc010zzn.1_Missense_Mutation_p.A129T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	129	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGTGCTTGGGCGATGACCAGG	0.418												
ZNF831	128611	broad.mit.edu	37	20	57766431	57766431	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57766431C>T	uc002yan.2	+	1	357	c.357C>T	c.(355-357)GGC>GGT	p.G119G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	119						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACATCGTGGGCACTCTGCCTG	0.687												
ZNF831	128611	broad.mit.edu	37	20	57767406	57767406	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57767406G>A	uc002yan.2	+	1	1332	c.1332G>A	c.(1330-1332)ACG>ACA	p.T444T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	444						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACCTGCCCACGCCCTACACCT	0.682												
CDH4	1002	broad.mit.edu	37	20	60511884	60511884	+	Silent	SNP	C	C	T	rs145794407	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:60511884C>T	uc002ybn.1	+	16	2648	c.2634C>T	c.(2632-2634)GGC>GGT	p.G878G	CDH4_uc002ybp.1_Silent_p.G804G|uc002ybr.1_5'Flank	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	878	Ser-rich.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACCGCAGGCTCCGTCAGCT	0.627												
NTSR1	4923	broad.mit.edu	37	20	61340658	61340658	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:61340658G>A	uc002ydf.2	+	1	470	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	33	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGCTGGCCCCGGGCTTCGGCA	0.726												
COL9A3	1299	broad.mit.edu	37	20	61467861	61467861	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:61467861A>G	uc002ydm.2	+	29	1583	c.1580A>G	c.(1579-1581)GAG>GGG	p.E527G	COL9A3_uc002ydn.2_Missense_Mutation_p.E21G	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	527	Nonhelical region 3 (NC3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CGCATCAGGGAGCTGTGTGGG	0.672												
EEF1A2	1917	broad.mit.edu	37	20	62127345	62127345	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62127345A>G	uc002yfd.1	-	2	289	c.188T>C	c.(187-189)CTG>CCG	p.L63P	EEF1A2_uc002yfe.1_Missense_Mutation_p.L63P|EEF1A2_uc010gkg.1_Missense_Mutation_p.L63P	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	63						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCCGCCTTCAGCTTGTCCAG	0.632											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZGPAT	84619	broad.mit.edu	37	20	62340125	62340125	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62340125G>A	uc002ygk.2	+	2	371	c.193G>A	c.(193-195)GCG>ACG	p.A65T	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.A65T|ZGPAT_uc002ygj.2_Missense_Mutation_p.A65T|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.A65T|ZGPAT_uc002ygm.2_Missense_Mutation_p.A65T|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	65					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTTGTTGGCCGCGCTGGACGA	0.672												
PRPF6	24148	broad.mit.edu	37	20	62664278	62664278	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62664278G>A	uc002yho.2	+	21	2926	c.2758G>A	c.(2758-2760)GCC>ACC	p.A920T	PRPF6_uc002yhp.2_Missense_Mutation_p.A880T|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	920					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAAGGACATCGCCAACTGGCA	0.637												
NRIP1	8204	broad.mit.edu	37	21	16340025	16340025	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:16340025G>T	uc002yjx.2	-	4	1087	c.489C>A	c.(487-489)GCC>GCA	p.A163A		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	163	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATGACTGAGGGCATATCCTT	0.418												
USP25	29761	broad.mit.edu	37	21	17199417	17199417	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:17199417G>T	uc002yjy.1	+	14	1805	c.1588G>T	c.(1588-1590)GAT>TAT	p.D530Y	USP25_uc011aby.1_Missense_Mutation_p.D530Y|USP25_uc002yjz.1_Missense_Mutation_p.D530Y|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	530					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATACCTCCAGATTTGCCCAT	0.458												
APP	351	broad.mit.edu	37	21	27394342	27394342	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:27394342C>T	uc002ylz.2	-	6	879	c.679G>A	c.(679-681)GAA>AAA	p.E227K	APP_uc010glk.2_Missense_Mutation_p.E222K|APP_uc002yma.2_Missense_Mutation_p.E227K|APP_uc011ach.1_Missense_Mutation_p.E171K|APP_uc002ymb.2_Missense_Mutation_p.E227K|APP_uc010glj.2_Missense_Mutation_p.E171K|APP_uc011aci.1_Missense_Mutation_p.E192K|APP_uc011acj.1_Missense_Mutation_p.E227K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	227	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)				tctgctacttctactactttg	0.139												
CLDN17	26285	broad.mit.edu	37	21	31538754	31538754	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:31538754C>T	uc011acv.1	-	1	182	c.182G>A	c.(181-183)CGG>CAG	p.R61Q		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	61	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GCATTGCAACCGGACCCTGGC	0.547												
KRTAP20-2	337976	broad.mit.edu	37	21	32007684	32007684	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:32007684C>T	uc011adg.1	+	1	102	c.102C>T	c.(100-102)GGC>GGT	p.G34G		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	34						intermediate filament				central_nervous_system(1)	1						GCTATGGAGGCCTGGGCTGTG	0.552												
ITSN1	6453	broad.mit.edu	37	21	35183448	35183448	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:35183448G>A	uc002yta.1	+	21	2757	c.2489G>A	c.(2488-2490)CGT>CAT	p.R830H	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R825H|ITSN1_uc010gmg.2_Missense_Mutation_p.R788H|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R830H|ITSN1_uc010gmi.2_Missense_Mutation_p.R793H|ITSN1_uc010gmj.2_Missense_Mutation_p.R709H|ITSN1_uc002ysy.2_Missense_Mutation_p.R825H|ITSN1_uc002ysx.2_Missense_Mutation_p.R788H|ITSN1_uc002ytb.1_Missense_Mutation_p.R825H|ITSN1_uc002ytc.1_Missense_Mutation_p.R825H|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R793H|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R825H|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R764H|ITSN1_uc002ytf.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	830					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTGGCCTTGCGTGAGACCCCC	0.557												
RUNX1	861	broad.mit.edu	37	21	36171665	36171665	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:36171665C>T	uc002yuh.2	-	5	2397	c.819G>A	c.(817-819)ACG>ACA	p.T273T	RUNX1_uc002yui.2_Silent_p.T209T|RUNX1_uc010gmu.2_Silent_p.T300T|RUNX1_uc010gmv.2_Silent_p.T300T|RUNX1_uc002yuj.3_Silent_p.T168T|RUNX1_uc002yuk.3_Silent_p.T300T|RUNX1_uc002yul.1_Silent_p.T65T|RUNX1_uc002yum.1_Silent_p.T104T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	273	Pro/Ser/Thr-rich.			Missing: No DNA-binding.|T->A: Reduced phsphorylation; when associated with A-276.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GTGAAATGGGCGTTGCTGGGT	0.527			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies			
TRAPPC10	7109	broad.mit.edu	37	21	45504008	45504008	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:45504008G>T	uc002zea.2	+	15	2413	c.2244G>T	c.(2242-2244)AAG>AAT	p.K748N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.K459N|TRAPPC10_uc011afa.1_Missense_Mutation_p.K167N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	748					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCTAGGCCAAGGAACCTGGAA	0.557												
ADARB1	104	broad.mit.edu	37	21	46596496	46596496	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:46596496G>A	uc002zgy.2	+	4	1315	c.880G>A	c.(880-882)GCC>ACC	p.A294T	ADARB1_uc002zgr.2_Missense_Mutation_p.A294T|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.A294T|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.A294T|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.A343T	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	294	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GTCTGCCCTGGCCGCCATTTT	0.557												
COL18A1	80781	broad.mit.edu	37	21	46888631	46888631	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:46888631C>T	uc011afs.1	+	2	1848	c.1827C>T	c.(1825-1827)GGC>GGT	p.G609G	COL18A1_uc002zhg.2_Silent_p.G194G|COL18A1_uc002zhi.2_Silent_p.G374G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	609	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCTCACGGGGCCTGGAGCTGG	0.652												
DIP2A	23181	broad.mit.edu	37	21	47985786	47985786	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:47985786C>T	uc002zjo.2	+	36	4508	c.4325C>T	c.(4324-4326)ACT>ATT	p.T1442I	DIP2A_uc011afz.1_Missense_Mutation_p.T1438I|DIP2A_uc002zjs.2_Missense_Mutation_p.T122I|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1442					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACAGAGCTCACTGATGCCAGT	0.602												
CECR6	27439	broad.mit.edu	37	22	17601186	17601186	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17601186C>T	uc002zmb.2	-	1	1028	c.832G>A	c.(832-834)GCC>ACC	p.A278T	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	278	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCGAGGGGGCGGGCAGATGC	0.532												
CECR6	27439	broad.mit.edu	37	22	17601202	17601202	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17601202C>T	uc002zmb.2	-	1	1012	c.816G>A	c.(814-816)CCG>CCA	p.P272P	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	272	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GATGCAGGGGCGGCGCGGCGT	0.562												
CECR2	27443	broad.mit.edu	37	22	17976597	17976597	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17976597C>T	uc010gqw.1	+	2	384	c.258C>T	c.(256-258)GAC>GAT	p.D86D	CECR2_uc010gqv.1_Translation_Start_Site|CECR2_uc002zml.2_Translation_Start_Site|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	128					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TGGATGCAGACGATGTCTTCG	0.512												
TSSK2	23617	broad.mit.edu	37	22	19119916	19119916	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:19119916A>G	uc002zow.2	+	1	1596	c.1004A>G	c.(1003-1005)GAC>GGC	p.D335G	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	335					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					AGGATGGAGGACAGGCTGGCC	0.617												
GNB1L	54584	broad.mit.edu	37	22	19789618	19789618	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:19789618T>C	uc002zqe.1	-	6	1032	c.638A>G	c.(637-639)GAC>GGC	p.D213G	GNB1L_uc002zqd.1_Missense_Mutation_p.D69G|GNB1L_uc002zqf.1_Missense_Mutation_p.D213G	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	213	WD 4.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					AAAGTCAAGGTCCATGACGGG	0.642												
ZDHHC8	29801	broad.mit.edu	37	22	20130500	20130500	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:20130500G>T	uc002zrq.2	+	10	1453	c.1347G>T	c.(1345-1347)CAG>CAT	p.Q449H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.Q449H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.Q255H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	449	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGGCCCTGCAGCCCCTGCGCT	0.697												
AIFM3	150209	broad.mit.edu	37	22	21322240	21322240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21322240G>A	uc002ztj.2	+	2	226	c.8G>A	c.(7-9)GGC>GAC	p.G3D	AIFM3_uc002ztk.2_Missense_Mutation_p.G3D|AIFM3_uc002ztl.2_Missense_Mutation_p.G3D|AIFM3_uc011ahx.1_Missense_Mutation_p.A28T	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	3					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCATGGGCGGCTGCTTCTCC	0.502												
THAP7	80764	broad.mit.edu	37	22	21354389	21354389	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21354389G>A	uc002ztr.1	-	5	740	c.710C>T	c.(709-711)GCC>GTC	p.A237V	THAP7_uc002zts.1_Missense_Mutation_p.A237V|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	237					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAGAGTAAGGCGCTGCCCAC	0.672												
HIC2	23119	broad.mit.edu	37	22	21800451	21800451	+	Missense_Mutation	SNP	G	G	A	rs137951777		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21800451G>A	uc002zur.3	+	3	1497	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	HIC2_uc002zus.3_Missense_Mutation_p.A423T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	423					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCATGCCAGCGCCCACTACAT	0.642												
PPM1F	9647	broad.mit.edu	37	22	22285617	22285617	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:22285617G>A	uc002zvp.1	-	6	908	c.794C>T	c.(793-795)GCG>GTG	p.A265V	PPM1F_uc011aik.1_Missense_Mutation_p.A161V|PPM1F_uc002zvq.2_Missense_Mutation_p.A265V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	265					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTGCAGGGTCGCTCCTGCAAT	0.453												
C22orf43	51233	broad.mit.edu	37	22	23968220	23968220	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:23968220C>T	uc002zxf.2	-	2	501	c.224G>A	c.(223-225)CGC>CAC	p.R75H		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	hypothetical protein LOC51233	75										skin(1)	1						TAAACTCAGGCGGTCCTCAGG	0.498												
SLC2A11	66035	broad.mit.edu	37	22	24219298	24219298	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24219298C>T	uc002zyn.3	+	5	575	c.476C>T	c.(475-477)GCC>GTC	p.A159V	SLC2A11_uc002zyl.1_Missense_Mutation_p.A166V|SLC2A11_uc002zym.3_Missense_Mutation_p.A166V|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Missense_Mutation_p.A166V|SLC2A11_uc011ajd.1_Missense_Mutation_p.A153V|SLC2A11_uc002zyp.3_Missense_Mutation_p.A162V	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	159	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1						GGAGCTGTGGCCATGAGCTCA	0.597												
CABIN1	23523	broad.mit.edu	37	22	24483489	24483489	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24483489G>A	uc002zzi.1	+	23	3475	c.3348G>A	c.(3346-3348)GGG>GGA	p.G1116G	CABIN1_uc002zzj.1_Silent_p.G1066G|CABIN1_uc002zzl.1_Silent_p.G1116G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1116	TPR 6.				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGAGTGATGGGCCCATTTGGA	0.557												
CABIN1	23523	broad.mit.edu	37	22	24573493	24573493	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24573493C>T	uc002zzi.1	+	36	6354	c.6227C>T	c.(6226-6228)CCG>CTG	p.P2076L	CABIN1_uc002zzj.1_Missense_Mutation_p.P1997L|CABIN1_uc002zzl.1_Missense_Mutation_p.P2076L|CABIN1_uc010gul.1_Missense_Mutation_p.P14L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2076					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGGCCTGAGCCGAGAAGGGAT	0.632												
SUSD2	56241	broad.mit.edu	37	22	24580178	24580178	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24580178G>A	uc002zzn.1	+	4	558	c.514G>A	c.(514-516)GCC>ACC	p.A172T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	172	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTACGGCACCGCCAACACCTC	0.592												
GGT5	2687	broad.mit.edu	37	22	24628050	24628050	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24628050G>A	uc002zzo.3	-	5	1140	c.723C>T	c.(721-723)GGC>GGT	p.G241G	GGT5_uc002zzp.3_Silent_p.G241G|GGT5_uc002zzr.3_Silent_p.G209G|GGT5_uc002zzq.3_Silent_p.G209G|GGT5_uc011ajm.1_Silent_p.G164G|GGT5_uc011ajn.1_Intron	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	241	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						CCAGCATCTGGCCCAGCCTCC	0.642												
SGSM1	129049	broad.mit.edu	37	22	25297812	25297812	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:25297812G>A	uc003abg.2	+	21	2945	c.2788G>A	c.(2788-2790)GAT>AAT	p.D930N	SGSM1_uc003abh.2_Missense_Mutation_p.D869N|SGSM1_uc010guu.1_Missense_Mutation_p.D875N|SGSM1_uc003abj.2_Missense_Mutation_p.D814N|SGSM1_uc003abi.1_Missense_Mutation_p.D850N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	930	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AGAGCTGCTGGATCTGTACAC	0.542												
MYO18B	84700	broad.mit.edu	37	22	26423175	26423175	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:26423175C>A	uc003abz.1	+	43	7485	c.7235C>A	c.(7234-7236)GCC>GAC	p.A2412D	MYO18B_uc003aca.1_Missense_Mutation_p.A2293D|MYO18B_uc010guy.1_Missense_Mutation_p.A2294D|MYO18B_uc010guz.1_Missense_Mutation_p.A2292D|MYO18B_uc011aka.1_Missense_Mutation_p.A1566D|MYO18B_uc011akb.1_Missense_Mutation_p.A1925D|MYO18B_uc010gva.1_Missense_Mutation_p.A395D|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2412						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGCCAGTTTGCCCACCTGATG	0.572												
CRYBB1	1414	broad.mit.edu	37	22	26995521	26995521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:26995521C>T	uc003acy.1	-	6	762	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	231	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			ovary(1)	1						GTCACGCAGGCGACGCAGGGA	0.627												
RHBDD3	25807	broad.mit.edu	37	22	29656789	29656789	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:29656789G>A	uc003aeq.1	-	5	969	c.597C>T	c.(595-597)GGC>GGT	p.G199G	RHBDD3_uc003aer.1_RNA	NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	199						integral to membrane	serine-type endopeptidase activity			ovary(1)	1						TGCACAAGACGCCCTCCTGCA	0.692												
AP1B1	162	broad.mit.edu	37	22	29737717	29737717	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:29737717G>T	uc003afj.2	-	13	1753	c.1569C>A	c.(1567-1569)GGC>GGA	p.G523G	AP1B1_uc003afi.2_Silent_p.G523G|AP1B1_uc003afk.2_Silent_p.G523G|AP1B1_uc003afl.2_Silent_p.G523G|AP1B1_uc011ako.1_Silent_p.G76G	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	523					endocytosis|intracellular protein transport|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|protein transporter activity			ovary(1)|skin(1)	2						AGTAGATGTAGCCACGGTCCC	0.597												
MTMR3	8897	broad.mit.edu	37	22	30415613	30415613	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:30415613C>T	uc003agv.3	+	17	2293	c.1965C>T	c.(1963-1965)GGC>GGT	p.G655G	MTMR3_uc003agu.3_Silent_p.G655G|MTMR3_uc003agw.3_Silent_p.G655G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	655					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCCTGGCTGGCCCTGGAGAGG	0.662												
TBC1D10A	83874	broad.mit.edu	37	22	30688804	30688804	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:30688804G>A	uc011akt.1	-	11	1111	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Missense_Mutation_p.R221C|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R275C|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R370C|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R363C	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						AGGTGTTCGCGCTCAATCTGG	0.637												
SMTN	6525	broad.mit.edu	37	22	31487683	31487683	+	Silent	SNP	G	G	A	rs141823576		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:31487683G>A	uc003ajl.1	+	11	1700	c.1482G>A	c.(1480-1482)GCG>GCA	p.A494A	SMTN_uc003ajk.1_Silent_p.A494A|SMTN_uc003ajm.1_Silent_p.A494A|SMTN_uc011ale.1_Silent_p.A548A|SMTN_uc011alf.1_Silent_p.A550A|SMTN_uc003ajn.1_Silent_p.A486A|SMTN_uc011alg.1_Intron|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	494					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GGCTGCGGGCGCCCCCGACCC	0.622												
HMGXB4	10042	broad.mit.edu	37	22	35661161	35661161	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:35661161A>G	uc003anl.2	+	5	954	c.780A>G	c.(778-780)TCA>TCG	p.S260S	HMGXB4_uc011amh.1_Silent_p.S151S|HMGXB4_uc003ank.2_Silent_p.S151S	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	260					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						ACGCACATTCATCTCCTGGCC	0.517												
MPST	4357	broad.mit.edu	37	22	37425350	37425350	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37425350G>A	uc003aqj.2	+	4	1101	c.689G>A	c.(688-690)CGC>CAC	p.R230H	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.2_Missense_Mutation_p.R230H|MPST_uc011amu.1_Missense_Mutation_p.R250H|MPST_uc003aql.2_Missense_Mutation_p.R230H|MPST_uc003aqn.2_3'UTR|MPST_uc003aqo.2_3'UTR	NM_001130517	NP_001123989	P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase isoform 2	230	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity				0						GAGGAGATCCGCCATCTGTTC	0.602												
TMPRSS6	164656	broad.mit.edu	37	22	37466617	37466617	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37466617G>T	uc003aqs.1	-	15	1889	c.1775C>A	c.(1774-1776)GCC>GAC	p.A592D	TMPRSS6_uc003aqt.1_Missense_Mutation_p.A583D	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	592	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGGAGGCTGGCCTGCCATGG	0.582												
SOX10	6663	broad.mit.edu	37	22	38369822	38369822	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38369822C>T	uc003aun.1	-	4	1359	c.1081G>A	c.(1081-1083)GCG>ACG	p.A361T	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.A361T	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	361						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					TGGGGCCCCGCGGTCTCTGTC	0.657												
PLA2G6	8398	broad.mit.edu	37	22	38528935	38528935	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38528935C>T	uc003auy.1	-	7	1116	c.980G>A	c.(979-981)CGC>CAC	p.R327H	PLA2G6_uc003auz.1_Missense_Mutation_p.R327H|PLA2G6_uc003ava.1_Missense_Mutation_p.R327H|PLA2G6_uc003avb.2_Missense_Mutation_p.R327H|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.R292H	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	327	ANK 6.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GAAGCGGTTGCGCATCACCGC	0.682												
SUN2	25777	broad.mit.edu	37	22	39134698	39134698	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:39134698C>T	uc003awh.1	-	17	2125	c.1841G>A	c.(1840-1842)CGC>CAC	p.R614H	SUN2_uc011anz.1_Missense_Mutation_p.R649H|SUN2_uc011aoa.1_Missense_Mutation_p.R603H|SUN2_uc003awi.1_Missense_Mutation_p.R614H|SUN2_uc010gxq.1_Missense_Mutation_p.R635H|SUN2_uc010gxr.1_Missense_Mutation_p.R614H|SUN2_uc010gxs.1_Missense_Mutation_p.R614H	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	614	SUN.|Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						GGCAGAGAGGCGGACCACGGC	0.632												
SMCR7L	54471	broad.mit.edu	37	22	39908309	39908309	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:39908309G>A	uc003axx.2	+	5	893	c.395G>A	c.(394-396)CGC>CAC	p.R132H	SMCR7L_uc003axw.2_Missense_Mutation_p.R132H|SMCR7L_uc010gxz.1_Intron|SMCR7L_uc003axy.2_Intron	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	132						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TCACGACTCCGCATGTCCCTG	0.592												
SGSM3	27352	broad.mit.edu	37	22	40803271	40803271	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:40803271G>T	uc003ayu.1	+	12	1516	c.1307G>T	c.(1306-1308)CGG>CTG	p.R436L	SGSM3_uc011aos.1_Missense_Mutation_p.R369L|SGSM3_uc011aot.1_Missense_Mutation_p.R373L|SGSM3_uc010gyd.1_Missense_Mutation_p.R479L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	436	Potential.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						GCTGACCTCCGGGAAGCCATC	0.622												
RANGAP1	5905	broad.mit.edu	37	22	41652736	41652736	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:41652736G>A	uc003azs.2	-	7	2337	c.867C>T	c.(865-867)CGC>CGT	p.R289R	RANGAP1_uc003azt.2_Silent_p.R289R|RANGAP1_uc003azu.2_Silent_p.R289R|RANGAP1_uc011aoz.1_Silent_p.R234R	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	289					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GCAGGCCGCCGCGGATGGCAT	0.517												
PMM1	5372	broad.mit.edu	37	22	41980050	41980050	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:41980050G>A	uc003bal.2	-	5	449	c.387C>T	c.(385-387)ATC>ATT	p.I129I		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	129					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						TCCGGAACTCGATGAAGGTTC	0.582												
ARFGAP3	26286	broad.mit.edu	37	22	43231437	43231437	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:43231437A>G	uc003bdd.2	-	4	544	c.324T>C	c.(322-324)CGT>CGC	p.R108R	ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	108	Arf-GAP.				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						GCTGAGCAGCACGACTGTTGT	0.433												
SAMM50	25813	broad.mit.edu	37	22	44368179	44368179	+	Missense_Mutation	SNP	C	C	T	rs150984629	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:44368179C>T	uc003bej.2	+	5	583	c.386C>T	c.(385-387)ACG>ATG	p.T129M	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	129					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGAGATTAACGGGCAGTTAT	0.363												
FBLN1	2192	broad.mit.edu	37	22	45946477	45946477	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:45946477A>G	uc003bgj.1	+	14	1826	c.1679A>G	c.(1678-1680)TAC>TGC	p.Y560C	FBLN1_uc003bgg.1_Missense_Mutation_p.Y560C|FBLN1_uc003bgh.2_Missense_Mutation_p.Y560C|FBLN1_uc010gzz.2_Missense_Mutation_p.Y598C|FBLN1_uc003bgi.1_Missense_Mutation_p.Y560C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	560	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTGAGAACTACCGCCGCTCC	0.602												
FBLN1	2192	broad.mit.edu	37	22	45970457	45970457	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:45970457C>T	uc003bgj.1	+	15	1911	c.1764C>T	c.(1762-1764)TGC>TGT	p.C588C		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	588					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTCACATGCGTGTTCGACC	0.637												
PKDREJ	10343	broad.mit.edu	37	22	46654556	46654556	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46654556T>C	uc003bhh.2	-	1	4664	c.4664A>G	c.(4663-4665)CAC>CGC	p.H1555R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1555	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGGAAGGGTGCTGTTCGGA	0.458												
CELSR1	9620	broad.mit.edu	37	22	46773146	46773146	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46773146G>A	uc003bhw.1	-	24	7396	c.7396C>T	c.(7396-7398)CTG>TTG	p.L2466L	CELSR1_uc011arc.1_Silent_p.L787L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2466	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCAGAGGCAGGACCTCCCCG	0.557												
CELSR1	9620	broad.mit.edu	37	22	46805670	46805670	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46805670C>T	uc003bhw.1	-	8	5041	c.5041G>A	c.(5041-5043)GGG>AGG	p.G1681R	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1681	Extracellular (Potential).|EGF-like 4; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGTTCTTCCCGCCGAATCGG	0.612												
FAM19A5	25817	broad.mit.edu	37	22	49103583	49103583	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:49103583A>G	uc003bim.3	+	3	434	c.317A>G	c.(316-318)GAA>GGA	p.E106G	FAM19A5_uc003bio.3_Missense_Mutation_p.E99G	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	106						extracellular region|integral to membrane				large_intestine(1)	1		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CTGGAGGGGGAAGGCTGCGAC	0.567												
BRD1	23774	broad.mit.edu	37	22	50192336	50192336	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50192336T>G	uc003biv.2	-	4	2144	c.1657_splice	c.e4-1	p.V553_splice	BRD1_uc011arf.1_Splice_Site_p.V148_splice|BRD1_uc011arg.1_Splice_Site_p.V607_splice|BRD1_uc011arh.1_Splice_Site_p.V553_splice|BRD1_uc003biu.3_Splice_Site_p.V553_splice	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTTCACCTGGGGGGGCCC	0.687												
PANX2	56666	broad.mit.edu	37	22	50615855	50615855	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50615855C>T	uc003bjn.3	+	2	714	c.714C>T	c.(712-714)AGC>AGT	p.S238S	PANX2_uc003bjp.3_Silent_p.S104S|PANX2_uc003bjo.3_Silent_p.S238S	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	238	Helical; (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGCTGCTGAGCGCCGTGCCCA	0.677												
SELO	83642	broad.mit.edu	37	22	50649302	50649302	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50649302C>T	uc011arr.1	+	5	1371	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	SELO_uc010hap.2_Missense_Mutation_p.A249V|SELO_uc003bjy.2_Missense_Mutation_p.A118V|SELO_uc003bjz.2_Missense_Mutation_p.A118V	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	438											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGACGGGGCGCTGGTGTCC	0.617											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TUBGCP6	85378	broad.mit.edu	37	22	50657578	50657578	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50657578C>T	uc003bkb.1	-	20	5057	c.4545G>A	c.(4543-4545)GCG>GCA	p.A1515A	TUBGCP6_uc003bka.1_Silent_p.A602A|TUBGCP6_uc010har.1_Silent_p.A1507A|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1515					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTCATAGTGCGCCTCCAGGT	0.647												
TUBGCP6	85378	broad.mit.edu	37	22	50659740	50659740	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50659740C>A	uc003bkb.1	-	16	3560	c.3048G>T	c.(3046-3048)GAG>GAT	p.E1016D	TUBGCP6_uc003bka.1_Missense_Mutation_p.E103D|TUBGCP6_uc010har.1_Missense_Mutation_p.E1008D|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.E212D	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1016					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCTGCTCCCCTCCTCCAGAG	0.652												
KLHDC7B	113730	broad.mit.edu	37	22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50988099C>T	uc003bmi.2	+	1	1638	c.1504C>T	c.(1504-1506)CGG>TGG	p.R502W		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502	Kelch 5.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGACCTGCTGCGGGGCGTGGG	0.697												
CHL1	10752	broad.mit.edu	37	3	440833	440833	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:440833T>C	uc003bou.2	+	25	3608	c.3337_splice	c.e25+2	p.V1113_splice	CHL1_uc003bot.2_Splice_Site_p.V1129_splice|CHL1_uc011asi.1_Splice_Site_p.V1076_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTACTCAGGTAAAATTGTTT	0.328												
CNTN6	27255	broad.mit.edu	37	3	1262392	1262392	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:1262392C>A	uc003boz.2	+	3	344	c.77C>A	c.(76-78)CCT>CAT	p.P26H	CNTN6_uc010hbo.2_Missense_Mutation_p.P21H|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.P26H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	26	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTAAGCCGTCCTATTTTTACT	0.363												
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:8590439C>T	uc003bqq.2	+	4	687	c.573C>T	c.(571-573)AGC>AGT	p.S191S	LMCD1_uc011atd.1_Silent_p.S118S|LMCD1_uc011ate.1_Silent_p.S79S|LMCD1_uc011atf.1_Silent_p.S118S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587												
THUMPD3	25917	broad.mit.edu	37	3	9413197	9413197	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9413197G>A	uc003bro.3	+	4	932	c.784G>A	c.(784-786)GAC>AAC	p.D262N	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.D262N	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	262	THUMP.						methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GTGGAAGGCCGACATGACCAA	0.433												
THUMPD3	25917	broad.mit.edu	37	3	9426223	9426223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9426223C>T	uc003bro.3	+	10	1523	c.1375C>T	c.(1375-1377)CGA>TGA	p.R459*	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Nonsense_Mutation_p.R459*	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	459							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATCTGGAATGCGACACGTATG	0.423												
SETD5	55209	broad.mit.edu	37	3	9512217	9512217	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9512217A>C	uc003brt.2	+	19	3234	c.2799A>C	c.(2797-2799)AGA>AGC	p.R933S	SETD5_uc003bru.2_Missense_Mutation_p.R835S|SETD5_uc003brv.2_Missense_Mutation_p.R822S|SETD5_uc010hck.2_Missense_Mutation_p.R415S|SETD5_uc003brx.2_Missense_Mutation_p.R602S	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	933										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTGCTGATAGACCTTCCCTAC	0.483												
BRPF1	7862	broad.mit.edu	37	3	9776020	9776020	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9776020C>T	uc003bse.2	+	2	595	c.196C>T	c.(196-198)CGC>TGC	p.R66C	BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	66	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GAAAAAGGGGCGCCAGTCACG	0.572												
ATP2B2	491	broad.mit.edu	37	3	10401790	10401790	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:10401790G>A	uc003bvt.2	-	13	2116	c.1677C>T	c.(1675-1677)GGC>GGT	p.G559G	ATP2B2_uc003bvv.2_Silent_p.G514G|ATP2B2_uc003bvw.2_Silent_p.G514G|ATP2B2_uc010hdo.2_Silent_p.G264G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	559	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GAGGCAGGGCGCCCTCCTTCT	0.687												
VGLL4	9686	broad.mit.edu	37	3	11600086	11600086	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:11600086C>T	uc003bwf.2	-	6	1183	c.817G>A	c.(817-819)GCC>ACC	p.A273T	VGLL4_uc010hdx.1_Missense_Mutation_p.A279T|VGLL4_uc003bwg.2_Missense_Mutation_p.A278T|VGLL4_uc010hdv.1_Missense_Mutation_p.A189T|VGLL4_uc010hdw.1_Missense_Mutation_p.A193T|VGLL4_uc011aun.1_Missense_Mutation_p.A214T	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GAGGGGCTGGCGGGCTGGCCC	0.637												
NUP210	23225	broad.mit.edu	37	3	13372108	13372108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13372108C>T	uc003bxv.1	-	30	4045	c.3962G>A	c.(3961-3963)CGC>CAC	p.R1321H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1321	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)					ATCCAGGACGCGGTAGCTCAG	0.502												
NUP210	23225	broad.mit.edu	37	3	13429924	13429924	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13429924A>G	uc003bxv.1	-	5	646	c.563T>C	c.(562-564)ATC>ACC	p.I188T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	188	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)					AGAAGGAGGGATGTACGTAGA	0.498												
HDAC11	79885	broad.mit.edu	37	3	13542247	13542247	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13542247C>T	uc003bxy.2	+	6	580	c.447C>T	c.(445-447)GGC>GGT	p.G149G	HDAC11_uc010heb.2_Missense_Mutation_p.A107V|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Silent_p.G121G|HDAC11_uc011auy.1_Silent_p.G98G	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	149	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|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 factor binding			ovary(2)	2						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZFYVE20	64145	broad.mit.edu	37	3	15115947	15115947	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:15115947C>T	uc003bzm.1	-	14	2311	c.1697G>A	c.(1696-1698)CGC>CAC	p.R566H	ZFYVE20_uc010hek.1_Missense_Mutation_p.R566H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	566	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						AAGGTGGGTGCGAGGCTCTCT	0.572												
COLQ	8292	broad.mit.edu	37	3	15529720	15529720	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:15529720C>T	uc003bzx.2	-	3	440	c.314G>A	c.(313-315)GGC>GAC	p.G105D	HACL1_uc011avr.1_RNA|COLQ_uc003bzv.2_Missense_Mutation_p.G95D|COLQ_uc003bzz.2_Missense_Mutation_p.G105D|COLQ_uc010heo.2_Intron|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_5'UTR|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	105	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0						AACCTGGGGGCCGGGAGGCCC	0.587												
THRB	7068	broad.mit.edu	37	3	24169194	24169194	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:24169194A>G	uc003ccx.3	-	10	1289	c.940T>C	c.(940-942)TCC>CCC	p.S314P	THRB_uc010hfe.2_Missense_Mutation_p.S314P|THRB_uc003ccy.3_Missense_Mutation_p.S314P|THRB_uc003ccz.3_Missense_Mutation_p.S309P	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	314	Ligand-binding.|Interaction with NR2F6.				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)	GCGCGAAGGGACATGATCTCC	0.498												
RBMS3	27303	broad.mit.edu	37	3	29781216	29781216	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:29781216A>T	uc003cel.2	+	5	635	c.405A>T	c.(403-405)CAA>CAT	p.Q135H	RBMS3_uc003cek.2_Missense_Mutation_p.Q135H|RBMS3_uc010hfq.2_Missense_Mutation_p.Q135H|RBMS3_uc003cem.2_Missense_Mutation_p.Q134H|RBMS3_uc010hfr.2_Missense_Mutation_p.Q135H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	135						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CTTAGCAACAAGAGCAAGACC	0.363												
MYD88	4615	broad.mit.edu	37	3	38181461	38181461	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:38181461G>A	uc003chx.2	+	2	658	c.474G>A	c.(472-474)GCG>GCA	p.A158A	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Silent_p.A158A|MYD88_uc011ayi.1_Silent_p.A158A|MYD88_uc011ayj.1_Silent_p.A158A|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	145	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAGCTGGCGGGCATCACCA	0.532			Mis 		ABC-DLBCL							
SCN5A	6331	broad.mit.edu	37	3	38592060	38592060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:38592060C>T	uc003cio.2	-	28	5997	c.5803G>A	c.(5803-5805)GGC>AGC	p.G1935S	SCN5A_uc003cin.2_Missense_Mutation_p.G1934S|SCN5A_uc003cil.3_Missense_Mutation_p.G1935S|SCN5A_uc010hhi.2_Missense_Mutation_p.G1917S|SCN5A_uc010hhk.2_Missense_Mutation_p.G1902S|SCN5A_uc011ayr.1_Missense_Mutation_p.G1881S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1935			G -> S (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGGAGAGGCCGCTGCCCGCC	0.622												
XIRP1	165904	broad.mit.edu	37	3	39226157	39226157	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39226157C>T	uc003cjk.1	-	2	5001	c.4780G>A	c.(4780-4782)GCC>ACC	p.A1594T	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.A277T	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1594							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGGCCTGGCGCTACTGCTG	0.572												
XIRP1	165904	broad.mit.edu	37	3	39227573	39227573	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39227573T>G	uc003cjk.1	-	2	3585	c.3364A>C	c.(3364-3366)AGG>CGG	p.R1122R	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1122							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTCTTCCCTACTGACCTTT	0.602												
XIRP1	165904	broad.mit.edu	37	3	39228162	39228162	+	Silent	SNP	G	G	A	rs149549006		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39228162G>A	uc003cjk.1	-	2	2996	c.2775C>T	c.(2773-2775)AGC>AGT	p.S925S	XIRP1_uc003cji.2_Silent_p.S925S|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	925							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGCTGCACGCTGCTCCTCT	0.642												
CCR3	1232	broad.mit.edu	37	3	46306955	46306955	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:46306955C>T	uc003cpg.1	+	4	849	c.306C>T	c.(304-306)GGC>GGT	p.G102G	CCR3_uc003cpi.1_Silent_p.G102G|CCR3_uc003cpj.1_Silent_p.G102G|CCR3_uc003cpk.1_Silent_p.G123G|CCR3_uc010hjb.1_Silent_p.G120G|CCR3_uc003cpl.1_Silent_p.G135G	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	102	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGGTTTTTGGCCATGGCATGT	0.502												
NBEAL2	23218	broad.mit.edu	37	3	47037219	47037219	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47037219C>T	uc003cqp.2	+	14	2093	c.1914C>T	c.(1912-1914)AGC>AGT	p.S638S	NBEAL2_uc010hjm.1_Silent_p.S199S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	638							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTACCAGCAGCGGCTCAGGGT	0.607												
NBEAL2	23218	broad.mit.edu	37	3	47046018	47046018	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47046018T>C	uc003cqp.2	+	38	6411	c.6232T>C	c.(6232-6234)TAC>CAC	p.Y2078H	NBEAL2_uc010hjm.1_Missense_Mutation_p.Y1455H|NBEAL2_uc010hjn.1_Missense_Mutation_p.Y474H|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2078	BEACH.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAACTTCGAGTACTTGATGCA	0.587												
COL7A1	1294	broad.mit.edu	37	3	48602399	48602399	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:48602399G>A	uc003ctz.2	-	117	8636	c.8635C>T	c.(8635-8637)CCA>TCA	p.P2879S	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2879	Nonhelical region (NC2).|BPTI/Kunitz inhibitor.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCCAGTGGCAGGGAACAG	0.612												
KLHDC8B	200942	broad.mit.edu	37	3	49213186	49213186	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49213186G>T	uc003cwh.2	+	6	1202	c.1017G>T	c.(1015-1017)CAG>CAT	p.Q339H	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	339	Kelch 8.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGTGGCCCAGGGCCCCAGTC	0.647												
IP6K1	9807	broad.mit.edu	37	3	49764749	49764749	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49764749G>T	uc003cxm.1	-	6	1447	c.1132C>A	c.(1132-1134)CCC>ACC	p.P378T	IP6K1_uc003cxn.1_Missense_Mutation_p.P213T|IP6K1_uc011bcv.1_Missense_Mutation_p.P213T|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	378					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GTGTTGCTGGGGCTGGTGCTG	0.637												
CAMKV	79012	broad.mit.edu	37	3	49899799	49899799	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49899799A>G	uc003cxt.1	-	2	216	c.23T>C	c.(22-24)CTG>CCG	p.L8P	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Missense_Mutation_p.L8P|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.L8P|CAMKV_uc011bcz.1_5'UTR|CAMKV_uc011bda.1_Missense_Mutation_p.L8P|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	8						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTGTCGCCCAGAGTCACACA	0.552												
MST1R	4486	broad.mit.edu	37	3	49936067	49936067	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49936067G>A	uc003cxy.3	-	4	1867	c.1603C>T	c.(1603-1605)CGT>TGT	p.R535C	MST1R_uc011bdd.1_Missense_Mutation_p.R535C|MST1R_uc011bde.1_Missense_Mutation_p.R535C|MST1R_uc011bdf.1_Missense_Mutation_p.R429C|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	535	Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTTAGGCAACGCCCACAGGTC	0.607												
SEMA3F	6405	broad.mit.edu	37	3	50223449	50223449	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:50223449C>T	uc003cyj.2	+	16	1913	c.1715C>T	c.(1714-1716)GCC>GTC	p.A572V	SEMA3F_uc003cyk.2_Missense_Mutation_p.A541V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	572					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GATGGCCAGGCCTGCTCCCGC	0.622												
RBM15B	29890	broad.mit.edu	37	3	51429820	51429820	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:51429820G>T	uc003dbd.2	+	1	1090	c.990G>T	c.(988-990)GAG>GAT	p.E330D		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	330					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGCCCGAGGATGACCAGC	0.622												
ABHD14A	25864	broad.mit.edu	37	3	52011901	52011901	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52011901C>A	uc003dco.2	+	2	194	c.84C>A	c.(82-84)ACC>ACA	p.T28T	ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Silent_p.T28T|ACY1_uc011bea.1_5'UTR	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	28						cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGTACAGACCTCCATGAGCC	0.612												
STAB1	23166	broad.mit.edu	37	3	52548457	52548457	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52548457G>A	uc003dej.2	+	34	3697	c.3623G>A	c.(3622-3624)CGC>CAC	p.R1208H		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1208	FAS1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTGGACACCGCAACTCCCTC	0.642												
STAB1	23166	broad.mit.edu	37	3	52554519	52554519	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52554519G>A	uc003dej.2	+	53	5677	c.5603G>A	c.(5602-5604)GGC>GAC	p.G1868D	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1868	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAGCCACCTGGCCTTGGTGCT	0.647												
CACNA2D3	55799	broad.mit.edu	37	3	54596848	54596848	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:54596848T>G	uc003dhf.2	+	6	614	c.566T>G	c.(565-567)GTT>GGT	p.V189G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.V95G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	189	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)		GTCAATGGGGTTTATTGGTCT	0.408												
IL17RD	54756	broad.mit.edu	37	3	57132349	57132349	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:57132349A>G	uc003dil.2	-	12	1471	c.1382T>C	c.(1381-1383)CTC>CCC	p.L461P	IL17RD_uc003dik.2_Missense_Mutation_p.L437P|IL17RD_uc010hna.2_Missense_Mutation_p.L317P|IL17RD_uc011bex.1_Missense_Mutation_p.L317P	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	461	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGCCTGGCGGAGCTTTTCGGC	0.562												
DNAH12	201625	broad.mit.edu	37	3	57496515	57496515	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:57496515A>G	uc003dit.2	-	5	650	c.469_splice	c.e5+1	p.V157_splice	DNAH12_uc003diu.2_Splice_Site_p.V157_splice	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						GATGCTACTTACCCAAATATC	0.398												
KBTBD8	84541	broad.mit.edu	37	3	67058677	67058677	+	Silent	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:67058677T>A	uc003dmy.2	+	4	1727	c.1674T>A	c.(1672-1674)CTT>CTA	p.L558L	KBTBD8_uc011bfv.1_Silent_p.L116L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	558	Kelch 5.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAATTCCCTTTACCAATATG	0.428												
IMPG2	50939	broad.mit.edu	37	3	100951720	100951720	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:100951720T>G	uc003duq.1	-	15	3341	c.3138A>C	c.(3136-3138)GAA>GAC	p.E1046D	IMPG2_uc011bhe.1_Missense_Mutation_p.E909D|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1046	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGGGCCGTTCTTCCACACTCA	0.502												
MYH15	22989	broad.mit.edu	37	3	108248155	108248155	+	Translation_Start_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:108248155T>C	uc003dxa.1	-	1	15	c.-42A>G	c.(-44--40)ATATG>ATGTG			NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AAAATGATCATATGAAGTAGA	0.363												
DZIP3	9666	broad.mit.edu	37	3	108405322	108405322	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:108405322C>T	uc003dxd.2	+	28	3462	c.3040C>T	c.(3040-3042)CCT>TCT	p.P1014S	DZIP3_uc003dxf.1_Missense_Mutation_p.P1014S|DZIP3_uc011bhm.1_Missense_Mutation_p.P465S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1014					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCTGCCAGCGCCTGTGGGAGA	0.507												
CCDC80	151887	broad.mit.edu	37	3	112358362	112358362	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:112358362G>A	uc003dzf.2	-	2	609	c.391C>T	c.(391-393)CGT>TGT	p.R131C	CCDC80_uc011bhv.1_Missense_Mutation_p.R131C|CCDC80_uc003dzg.2_Missense_Mutation_p.R131C|CCDC80_uc003dzh.1_Missense_Mutation_p.R131C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	131										ovary(2)	2						GAAGGGAAACGCAACATTCTT	0.582												
ZBTB20	26137	broad.mit.edu	37	3	114069396	114069396	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:114069396G>A	uc003ebi.2	-	4	1709	c.1529C>T	c.(1528-1530)GCC>GTC	p.A510V	ZBTB20_uc003ebj.2_Missense_Mutation_p.A437V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A437V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGTGAAGAGGGCTGGCAGGTA	0.612												
IGSF11	152404	broad.mit.edu	37	3	118649028	118649028	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:118649028G>A	uc003ebw.2	-	2	394	c.147C>T	c.(145-147)AGC>AGT	p.S49S	IGSF11_uc011biv.1_Silent_p.S49S|IGSF11_uc003ebx.2_Silent_p.S49S|IGSF11_uc003eby.2_Silent_p.S48S|IGSF11_uc003ebz.2_Silent_p.S48S|IGSF11_uc010hqs.2_Silent_p.S48S	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	49	Ig-like V-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						TGAGGGCAGCGCTGGTAGTGA	0.542												
ARHGAP31	57514	broad.mit.edu	37	3	119134425	119134425	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119134425C>T	uc003ecj.3	+	12	4181	c.3649C>T	c.(3649-3651)CCC>TCC	p.P1217S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ACAGCCCCTGCCCTCTCAGAG	0.587												
TMEM39A	55254	broad.mit.edu	37	3	119165880	119165880	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119165880A>G	uc003eck.1	-	5	923	c.560T>C	c.(559-561)CTT>CCT	p.L187P	TMEM39A_uc003ecl.1_Missense_Mutation_p.L35P	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	187	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GCCAAGGAAAAGGAGATTGAG	0.398												
PLA1A	51365	broad.mit.edu	37	3	119325738	119325738	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119325738G>T	uc003ecu.2	+	2	230	c.191G>T	c.(190-192)GGG>GTG	p.G64V	PLA1A_uc003ecv.2_Missense_Mutation_p.G64V|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	64					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTAGCTGTGGGCAGCTAGTA	0.488												
CASR	846	broad.mit.edu	37	3	122003039	122003039	+	Silent	SNP	G	G	A	rs149557554	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122003039G>A	uc003eev.3	+	7	2610	c.2238G>A	c.(2236-2238)GCG>GCA	p.A746A	CASR_uc003eew.3_Silent_p.A756A	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	746	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTACACCGCGCCCCCGTCAA	0.587												
CASR	846	broad.mit.edu	37	3	122003716	122003716	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122003716C>T	uc003eev.3	+	7	3287	c.2915C>T	c.(2914-2916)ACG>ATG	p.T972M	CASR_uc003eew.3_Missense_Mutation_p.T982M	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	972	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCAGCGGCACGGTCACCTTC	0.582												
SEMA5B	54437	broad.mit.edu	37	3	122641164	122641164	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122641164C>T	uc003efz.1	-	11	1707	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N	SEMA5B_uc011bju.1_Missense_Mutation_p.S410N|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S468N|SEMA5B_uc010hro.1_Missense_Mutation_p.S410N|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	468	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GAAGCGCACGCTGTCCTGGGT	0.647												
KALRN	8997	broad.mit.edu	37	3	124369721	124369721	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:124369721G>A	uc003ehg.2	+	38	5855	c.5728G>A	c.(5728-5730)GCC>ACC	p.A1910T	KALRN_uc003ehi.2_Missense_Mutation_p.A251T|KALRN_uc003ehk.2_Missense_Mutation_p.A213T|KALRN_uc011bjz.1_Missense_Mutation_p.A2T|KALRN_uc003ehj.2_Missense_Mutation_p.A181T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1909					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						TGAGGGGATGGCCCCACCCAC	0.532												
CCDC37	348807	broad.mit.edu	37	3	126154472	126154472	+	Missense_Mutation	SNP	G	G	A	rs145096068	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126154472G>A	uc003eiu.1	+	16	1798	c.1699G>A	c.(1699-1701)GCC>ACC	p.A567T	CCDC37_uc010hsg.1_Missense_Mutation_p.A568T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	567	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CCGGGCGCGCGCCCAGGCTGA	0.592												
PLXNA1	5361	broad.mit.edu	37	3	126735456	126735456	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126735456C>T	uc003ejg.2	+	15	3046	c.3042C>T	c.(3040-3042)AAC>AAT	p.N1014N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1037	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGCTCACCAACCCTGAGGTGA	0.622												
PLXNA1	5361	broad.mit.edu	37	3	126741057	126741057	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126741057G>A	uc003ejg.2	+	21	4103	c.4099G>A	c.(4099-4101)GCC>ACC	p.A1367T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1390	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGGGAATGTGGCCTCGCTCAT	0.607												
RUVBL1	8607	broad.mit.edu	37	3	127816207	127816207	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:127816207C>T	uc003ekh.2	-	8	1056	c.952G>A	c.(952-954)GCC>ACC	p.A318T	RUVBL1_uc003eke.2_Missense_Mutation_p.A59T|RUVBL1_uc003ekf.2_Missense_Mutation_p.A258T|RUVBL1_uc010hss.2_Missense_Mutation_p.A318T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	318					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GACTCCAGGGCGCGGTGCAGG	0.547												
PIK3R4	30849	broad.mit.edu	37	3	130452966	130452966	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:130452966C>A	uc003enj.2	-	4	1457	c.876G>T	c.(874-876)CAG>CAT	p.Q292H		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GGTGAATCATCTGAGTTACCT	0.353												
UBA5	79876	broad.mit.edu	37	3	132394093	132394093	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:132394093T>G	uc003epa.3	+	9	1056	c.814T>G	c.(814-816)TTT>GTT	p.F272V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.F216V|UBA5_uc010htt.2_Missense_Mutation_p.F272V|UBA5_uc003epb.3_Missense_Mutation_p.F216V|UBA5_uc003epc.2_5'Flank	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	272					protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1						TTTTTCTAGGTTTCTGTTAAA	0.269												
TOPBP1	11073	broad.mit.edu	37	3	133377884	133377884	+	Silent	SNP	G	G	A	rs61747713		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:133377884G>A	uc003eps.2	-	3	327	c.195C>T	c.(193-195)GGC>GGT	p.G65G		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	65					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CAAAGACAACGCCACTAAAAG	0.338								Other_conserved_DNA_damage_response_genes				
TF	7018	broad.mit.edu	37	3	133485235	133485235	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:133485235C>A	uc003epu.1	+	17	3172	c.1444C>A	c.(1444-1446)CCC>ACC	p.P482T	TF_uc011blt.1_Missense_Mutation_p.P355T|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.P482T	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGGAACATCCCCATGGGCCT	0.537												
AMOTL2	51421	broad.mit.edu	37	3	134078146	134078146	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:134078146C>T	uc003eqf.2	-	8	2374	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	AMOTL2_uc003eqg.1_Missense_Mutation_p.A695T|AMOTL2_uc003eqh.1_Missense_Mutation_p.A693T|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Missense_Mutation_p.A320T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	695										large_intestine(1)	1						CGAGCAGGGGCGTCTGCTGTT	0.587												
EPHB1	2047	broad.mit.edu	37	3	134880956	134880956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:134880956C>T	uc003eqt.2	+	7	1739	c.1519C>T	c.(1519-1521)CGT>TGT	p.R507C	EPHB1_uc003equ.2_Missense_Mutation_p.R68C	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	507	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GGTACAGGTGCGTGCCCGCAC	0.552												
STAG1	10274	broad.mit.edu	37	3	136287655	136287655	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:136287655C>T	uc003era.1	-	5	638	c.346G>A	c.(346-348)GCA>ACA	p.A116T	STAG1_uc003erb.1_Missense_Mutation_p.A116T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_Missense_Mutation_p.A19T|STAG1_uc003ere.2_Missense_Mutation_p.A116T	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	116					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TCCAGAAGTGCGATGTCCCTG	0.348												
ESYT3	83850	broad.mit.edu	37	3	138170891	138170891	+	Missense_Mutation	SNP	T	T	G	rs149154169		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:138170891T>G	uc003esk.2	+	2	555	c.329T>G	c.(328-330)ATC>AGC	p.I110S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	110						integral to membrane|plasma membrane					0						CTTTCCTAGATCCACTTCCCG	0.672												
SR140	23350	broad.mit.edu	37	3	142741774	142741774	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:142741774G>A	uc003evh.1	+	12	1197	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Silent_p.P366P|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.P365P|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	366	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						TATACATTCCGCCTTCTATGA	0.423												
IGSF10	285313	broad.mit.edu	37	3	151165718	151165718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:151165718G>A	uc011bod.1	-	4	2051	c.2051C>T	c.(2050-2052)TCC>TTC	p.S684F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	684					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)			AATAGGATTGGACTCATCAAG	0.463												
DHX36	170506	broad.mit.edu	37	3	154010429	154010429	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:154010429C>T	uc003ezy.3	-	15	1806	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	DHX36_uc010hvq.2_Silent_p.T561T|DHX36_uc003ezz.3_Silent_p.T575T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	575	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TATCAAAATGCGTCTCTTTTA	0.343												
SI	6476	broad.mit.edu	37	3	164793707	164793707	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:164793707C>T	uc003fei.2	-	2	156	c.94G>A	c.(94-96)GCA>ACA	p.A32T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	32	Helical; Signal-anchor for type II membrane protein; (Potential).				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)	GTCTTAGTTGCTAAAACAACA	0.333										HNSCC(35;0.089)		
BCHE	590	broad.mit.edu	37	3	165547369	165547369	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:165547369T>C	uc003fem.3	-	2	1613	c.1453A>G	c.(1453-1455)ACA>GCA	p.T485A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	485					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCGGCTTTTGTGTAATTATCT	0.413												
WDR49	151790	broad.mit.edu	37	3	167196720	167196720	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:167196720T>C	uc003fev.1	-	15	2346	c.2040A>G	c.(2038-2040)AAA>AAG	p.K680K	WDR49_uc003feu.1_Silent_p.K505K|WDR49_uc011bpd.1_Silent_p.K645K|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	680										large_intestine(1)|ovary(1)|skin(1)	3						ATTGCTTGGCTTTTCGTTCAT	0.313												
GOLIM4	27333	broad.mit.edu	37	3	167759195	167759195	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:167759195C>T	uc003ffe.2	-	6	929	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	GOLIM4_uc011bpe.1_Silent_p.Q195Q|GOLIM4_uc011bpf.1_Silent_p.Q195Q|GOLIM4_uc011bpg.1_Silent_p.Q195Q	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	195	Potential.|Golgi targeting.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CATCTTGAAGCTGTGTATGTA	0.343												
MECOM	2122	broad.mit.edu	37	3	169099149	169099149	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:169099149G>A	uc011bpj.1	-	2	604	c.201C>T	c.(199-201)CCC>CCT	p.P67P	MECOM_uc003ffl.2_Silent_p.P39P|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.P67P|MECOM_uc011bpl.1_Silent_p.P67P	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GGATGTAGATGGGGGCTTTGT	0.498												
NLGN1	22871	broad.mit.edu	37	3	173322476	173322476	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:173322476A>G	uc003fio.1	+	3	511	c.88A>G	c.(88-90)ACT>GCT	p.T30A	NLGN1_uc010hww.1_Missense_Mutation_p.T30A|NLGN1_uc003fip.1_Missense_Mutation_p.T30A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	30					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCCCCATTGACTCTCTGTAT	0.502												
NAALADL2	254827	broad.mit.edu	37	3	175520895	175520895	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:175520895A>C	uc003fit.2	+	14	2379	c.2292A>C	c.(2290-2292)GAA>GAC	p.E764D		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	764	Extracellular (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)		CCCTTCAAGAAGCCCTGTCAG	0.433												
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
DVL3	1857	broad.mit.edu	37	3	183885375	183885375	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:183885375C>T	uc003fms.2	+	12	1346	c.1206C>T	c.(1204-1206)GAC>GAT	p.D402D	DVL3_uc011bqw.1_Silent_p.D385D|DVL3_uc003fmt.2_Silent_p.D73D|DVL3_uc003fmu.2_Silent_p.D234D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	402					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGGCCTAGACGACTTCCACT	0.333												
EIF4G1	1981	broad.mit.edu	37	3	184039599	184039599	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:184039599G>A	uc003fnp.2	+	10	1425	c.1227G>A	c.(1225-1227)TCG>TCA	p.S409S	EIF4G1_uc003fno.1_Silent_p.S350S|EIF4G1_uc010hxw.1_Silent_p.S245S|EIF4G1_uc003fnt.2_Silent_p.S120S|EIF4G1_uc003fnq.2_Silent_p.S322S|EIF4G1_uc003fnr.2_Silent_p.S245S|EIF4G1_uc010hxx.2_Silent_p.S416S|EIF4G1_uc003fns.2_Silent_p.S369S|EIF4G1_uc010hxy.2_Silent_p.S416S|EIF4G1_uc003fnv.3_Silent_p.S409S|EIF4G1_uc003fnu.3_Silent_p.S409S|EIF4G1_uc003fnw.2_Silent_p.S416S|EIF4G1_uc003fnx.2_Silent_p.S213S|EIF4G1_uc003fny.3_Silent_p.S213S	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	409					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)			GAGCCCCCTCGCCACCAGCTG	0.632												
IGF2BP2	10644	broad.mit.edu	37	3	185404892	185404892	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:185404892G>A	uc003fpo.2	-	7	844	c.765C>T	c.(763-765)TGC>TGT	p.C255C	IGF2BP2_uc010hyi.2_Silent_p.C198C|IGF2BP2_uc010hyj.2_Silent_p.C192C|IGF2BP2_uc010hyk.2_Silent_p.C119C|IGF2BP2_uc010hyl.2_Silent_p.C192C|IGF2BP2_uc003fpp.2_Silent_p.C255C|IGF2BP2_uc003fpq.2_Silent_p.C260C	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	255	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAATCATGCGGCATGCTTCAG	0.458												
TP63	8626	broad.mit.edu	37	3	189456514	189456514	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:189456514G>T	uc003fry.2	+	3	364	c.275G>T	c.(274-276)AGC>ATC	p.S92I	TP63_uc003frx.2_Missense_Mutation_p.S92I|TP63_uc003frz.2_Missense_Mutation_p.S92I|TP63_uc010hzc.1_Missense_Mutation_p.S92I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	92	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTGAGATTAGCATGGACTGT	0.473									Hay-Wells_syndrome	HNSCC(45;0.13)		
ATP13A4	84239	broad.mit.edu	37	3	193130155	193130155	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:193130155C>T	uc003ftd.2	-	27	3128	c.3020G>A	c.(3019-3021)TGC>TAC	p.C1007Y	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1007	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGTACTGTGCAGGCACTAAA	0.393												
MFI2	4241	broad.mit.edu	37	3	196736677	196736677	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:196736677T>C	uc003fxk.3	-	11	1450	c.1337A>G	c.(1336-1338)GAC>GGC	p.D446G		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	446	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTTGCTGCTGTCTTCCGCTGG	0.647												
MFI2	4241	broad.mit.edu	37	3	196743103	196743103	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:196743103A>G	uc003fxk.3	-	8	1151	c.1038T>C	c.(1036-1038)CAT>CAC	p.H346H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	346	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCAGGTACTCATGGCCCAGCC	0.597												
HAUS3	79441	broad.mit.edu	37	4	2242355	2242355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:2242355G>A	uc003ges.1	-	2	549	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Nonsense_Mutation_p.Q107*|HAUS3_uc003get.1_Nonsense_Mutation_p.Q107*	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	107	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						AGTAGAGTTTGAACCTCATCC	0.378												
ZBTB49	166793	broad.mit.edu	37	4	4322608	4322608	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:4322608G>A	uc003ghu.2	+	8	2038	c.1863G>A	c.(1861-1863)ACG>ACA	p.T621T	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Silent_p.T104T|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Silent_p.T199T	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCCAAGACACGTCTGTGACGC	0.537												
STX18	53407	broad.mit.edu	37	4	4440158	4440158	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:4440158T>C	uc003gic.2	-	6	660	c.576A>G	c.(574-576)AAA>AAG	p.K192K		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	192	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTTCAGAGTCTTTTGAAGGAC	0.393												
EVC	2121	broad.mit.edu	37	4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:5798849C>T	uc003gil.1	+	14	2171	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	663					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GACGCAGATGCGGCTATCGGG	0.677												
KIAA0232	9778	broad.mit.edu	37	4	6864082	6864082	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:6864082C>A	uc003gjr.3	+	7	2436	c.1973C>A	c.(1972-1974)TCT>TAT	p.S658Y	KIAA0232_uc003gjq.3_Missense_Mutation_p.S658Y	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	658							ATP binding			ovary(2)	2						TGCAGTAATTCTGTTTTACCA	0.353												
KIAA0232	9778	broad.mit.edu	37	4	6864571	6864571	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:6864571G>A	uc003gjr.3	+	7	2925	c.2462G>A	c.(2461-2463)AGC>AAC	p.S821N	KIAA0232_uc003gjq.3_Missense_Mutation_p.S821N	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	821							ATP binding			ovary(2)	2						GATGGCTACAGCTCAGGGGTT	0.378												
AFAP1	60312	broad.mit.edu	37	4	7820825	7820825	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:7820825A>G	uc003gkg.1	-	7	1073	c.800T>C	c.(799-801)GTG>GCG	p.V267A	AFAP1_uc011bwk.1_Missense_Mutation_p.V267A	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	267						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGCCTTGTGCACCGGGGAGCT	0.522												
SH3TC1	54436	broad.mit.edu	37	4	8242611	8242611	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:8242611C>T	uc003gkv.3	+	18	4041	c.3940C>T	c.(3940-3942)CGC>TGC	p.R1314C	SH3TC1_uc003gkw.3_Missense_Mutation_p.R1238C|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1314							binding			large_intestine(2)|pancreas(1)	3						GCTCAACGTCCGCAGGGTCAA	0.632												
DRD5	1816	broad.mit.edu	37	4	9783755	9783755	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:9783755G>A	uc003gmb.3	+	1	498	c.102G>A	c.(100-102)CCG>CCA	p.P34P		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	34	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGGGGGCACCGCCACTGGGGC	0.701												
NCAPG	64151	broad.mit.edu	37	4	17819570	17819570	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:17819570T>G	uc003gpp.2	+	7	1153	c.977T>G	c.(976-978)ATT>AGT	p.I326S	NCAPG_uc011bxj.1_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	326					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		AGGAAATTGATTCCAGTGGAA	0.308												
RBPJ	3516	broad.mit.edu	37	4	26431568	26431568	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:26431568G>A	uc003grx.1	+	10	1212	c.976G>A	c.(976-978)GCT>ACT	p.A326T	RBPJ_uc003gry.1_Missense_Mutation_p.A311T|RBPJ_uc003grz.1_Missense_Mutation_p.A326T|RBPJ_uc011bxt.1_Missense_Mutation_p.A326T|RBPJ_uc003gsa.1_Missense_Mutation_p.A312T|RBPJ_uc003gsb.1_Missense_Mutation_p.A313T|RBPJ_uc003gsc.1_Missense_Mutation_p.A312T	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	326					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				AAATGATGGCGCTTCCTGGAC	0.403												
RBM47	54502	broad.mit.edu	37	4	40440760	40440760	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:40440760C>A	uc003gvc.2	-	4	861	c.151G>T	c.(151-153)GGG>TGG	p.G51W	RBM47_uc003gvd.2_Missense_Mutation_p.G51W|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G13W|RBM47_uc003gvg.1_Missense_Mutation_p.G51W	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	51						nucleus	nucleotide binding|RNA binding			breast(3)	3						TTGCGCTGCCCGTTCTCTTGC	0.721												
PHOX2B	8929	broad.mit.edu	37	4	41748270	41748270	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:41748270C>T	uc003gwf.3	-	3	859	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	167	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						CCGTTCTTGGCCGCGGCCGCT	0.657			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
CNGA1	1259	broad.mit.edu	37	4	47938810	47938810	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:47938810A>G	uc003gxt.3	-	11	1967	c.1701T>C	c.(1699-1701)AGT>AGC	p.S567S	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S636S	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	567	cGMP (Potential).|Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AGTAGCCAATACTTTTAATAT	0.443												
SGCB	6443	broad.mit.edu	37	4	52895882	52895882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:52895882G>A	uc003gzj.2	-	3	451	c.391C>T	c.(391-393)CGA>TGA	p.R131*	SGCB_uc011bzp.1_Nonsense_Mutation_p.R61*	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	131	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTTTCATTTCGCCTTCCTCCT	0.413												
GSX2	170825	broad.mit.edu	37	4	54966568	54966568	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:54966568G>A	uc010igp.1	+	1	321	c.57G>A	c.(55-57)GCG>GCA	p.A19A	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	19						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CACGGCCTGCGCCCTCGCTGC	0.677												
PDGFRA	5156	broad.mit.edu	37	4	55146554	55146554	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:55146554T>C	uc003han.3	+	16	2559	c.2228T>C	c.(2227-2229)GTC>GCC	p.V743A	PDGFRA_uc003haa.2_Missense_Mutation_p.V503A|PDGFRA_uc010igq.1_Missense_Mutation_p.V637A|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.V122A	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	743	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACACAGTATGTCCCCATGCTA	0.368			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KIT	3815	broad.mit.edu	37	4	55602973	55602973	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:55602973G>A	uc010igr.2	+	19	2770	c.2683G>A	c.(2683-2685)GCA>ACA	p.A895T	KIT_uc010igs.2_Missense_Mutation_p.A891T	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	895	Protein kinase.|Cytoplasmic (Potential).		Missing (in PBT; severe).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTGAACACGCACCTGCTGA	0.438		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
EXOC1	55763	broad.mit.edu	37	4	56763012	56763012	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:56763012C>T	uc003hbe.1	+	16	2241	c.2083C>T	c.(2083-2085)CGT>TGT	p.R695C	EXOC1_uc003hbf.1_Missense_Mutation_p.R695C|EXOC1_uc003hbg.1_Missense_Mutation_p.R680C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	695					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAGCGTCGTGGAGACCT	0.333												
UBA6	55236	broad.mit.edu	37	4	68490787	68490787	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:68490787G>A	uc003hdg.3	-	29	2689	c.2637C>T	c.(2635-2637)GAC>GAT	p.D879D		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	879					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TTTTGAAACGGTCAGCTGGTT	0.368												
AMBN	258	broad.mit.edu	37	4	71472000	71472000	+	Silent	SNP	C	C	T	rs76096306	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:71472000C>T	uc003hfl.2	+	13	972	c.897C>T	c.(895-897)GGC>GGT	p.G299G		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	299					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			CAGCTATGGGCGGTGACTTCA	0.592												
ADAMTS3	9508	broad.mit.edu	37	4	73161432	73161432	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:73161432C>T	uc003hgk.1	-	19	2699	c.2662G>A	c.(2662-2664)GCC>ACC	p.A888T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	888	TSP type-1 2.				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)			TTTTTGTTGGCCTCACAGAAG	0.373												
ADAMTS3	9508	broad.mit.edu	37	4	73179443	73179443	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:73179443T>C	uc003hgk.1	-	12	1733	c.1696A>G	c.(1696-1698)ACA>GCA	p.T566A	ADAMTS3_uc003hgl.2_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	566	TSP type-1 1.				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)			GTTCCACATGTCCGAGAACAG	0.418												
RASSF6	166824	broad.mit.edu	37	4	74451071	74451071	+	Silent	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:74451071A>C	uc003hhd.1	-	6	612	c.489T>G	c.(487-489)TCT>TCG	p.S163S	RASSF6_uc003hhc.1_Silent_p.S131S|RASSF6_uc010iik.1_Silent_p.S131S|RASSF6_uc010iil.1_Silent_p.S119S	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	163					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGTGATAAGATAAATAGT	0.423												
MTHFD2L	441024	broad.mit.edu	37	4	75091091	75091091	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:75091091A>G	uc011cbk.1	+	6	812	c.785A>G	c.(784-786)GAT>GGT	p.D262G	MTHFD2L_uc011cbj.1_Missense_Mutation_p.D204G|MTHFD2L_uc003hhu.2_RNA	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	204					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			CAGCTGGCAGATATTATCATA	0.408												
BMP3	651	broad.mit.edu	37	4	81967654	81967654	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:81967654G>T	uc003hmg.3	+	2	1399	c.1079G>T	c.(1078-1080)AGG>ATG	p.R360M		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	360					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						AAAAAGGCAAGGAGAAAGCAG	0.483												
PRKG2	5593	broad.mit.edu	37	4	82125916	82125916	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:82125916C>T	uc003hmh.2	-	1	300	c.286G>A	c.(286-288)GCC>ACC	p.A96T	PRKG2_uc011cch.1_Missense_Mutation_p.A96T	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	96					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TCTGGAGAGGCCTGAAGCGGG	0.567												
PKD2	5311	broad.mit.edu	37	4	88989190	88989190	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:88989190C>T	uc003hre.2	+	13	2565	c.2499C>T	c.(2497-2499)GGC>GGT	p.G833G	PKD2_uc011cdf.1_Silent_p.G251G|PKD2_uc011cdg.1_Silent_p.G159G|PKD2_uc011cdh.1_Silent_p.G56G	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	833	C-terminal coiled coil domain.|Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTCTAGTGGCGTTTCTTACG	0.478												
MMRN1	22915	broad.mit.edu	37	4	90857014	90857014	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:90857014T>C	uc003hst.2	+	6	2254	c.2183T>C	c.(2182-2184)CTC>CCC	p.L728P	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L470P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	728					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGATGGCCTCAATAAGACA	0.323												
MANBA	4126	broad.mit.edu	37	4	103644044	103644044	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:103644044A>G	uc003hwg.2	-	4	633	c.533T>C	c.(532-534)GTC>GCC	p.V178A	MANBA_uc011ces.1_Intron	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	178					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AACAAAGTTGACATGGCATTC	0.502												
TIFA	92610	broad.mit.edu	37	4	113199100	113199100	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:113199100C>A	uc003ial.2	-	2	755	c.473G>T	c.(472-474)AGG>ATG	p.R158M		NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with a	158							protein binding			breast(1)	1		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CGGTATGGGCCTGTGTGGTGG	0.438												
NDST3	9348	broad.mit.edu	37	4	119145777	119145777	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:119145777G>T	uc003ibx.2	+	7	2074	c.1671G>T	c.(1669-1671)CTG>CTT	p.L557L	NDST3_uc011cgf.1_Silent_p.L476L	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	557	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CAGTACAACTGGCCCACAAGT	0.408												
USP53	54532	broad.mit.edu	37	4	120161049	120161049	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:120161049C>T	uc003ics.3	+	4	1201	c.135C>T	c.(133-135)AGC>AGT	p.S45S	USP53_uc003icr.3_Silent_p.S45S|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	45					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						TTCTTAATAGCGCTGTACAGG	0.333												
MAD2L1	4085	broad.mit.edu	37	4	120987858	120987858	+	Missense_Mutation	SNP	A	A	T	rs11542099		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:120987858A>T	uc003idl.2	-	1	156	c.32T>A	c.(31-33)ATC>AAC	p.I11N	MAD2L1_uc003idm.2_Missense_Mutation_p.I11N	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0						GCGCAGGGTGATTCCCTGCTC	0.627												
FAT4	79633	broad.mit.edu	37	4	126242670	126242670	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:126242670G>A	uc003ifj.3	+	1	5104	c.5104G>A	c.(5104-5106)GCA>ACA	p.A1702T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1702	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGCAAGGAGCATGTCTTTA	0.413												
FAT4	79633	broad.mit.edu	37	4	126412700	126412700	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:126412700C>A	uc003ifj.3	+	17	14723	c.14723C>A	c.(14722-14724)GCA>GAA	p.A4908E	FAT4_uc011cgp.1_Missense_Mutation_p.A3149E|FAT4_uc003ifi.1_Missense_Mutation_p.A2385E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4908	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCCAGGCAGCAGCACCAGGC	0.572												
SCLT1	132320	broad.mit.edu	37	4	129864248	129864248	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:129864248T>C	uc003igp.2	-	17	2041	c.1535A>G	c.(1534-1536)CAA>CGA	p.Q512R	SCLT1_uc003ign.2_Missense_Mutation_p.Q176R|SCLT1_uc003igo.2_Missense_Mutation_p.Q122R|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	512	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TTTTAGCCTTTGTTCACTGAC	0.388												
OTUD4	54726	broad.mit.edu	37	4	146059018	146059018	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:146059018C>G	uc003ika.3	-	21	2852	c.2714G>C	c.(2713-2715)AGA>ACA	p.R905T	OTUD4_uc003ijz.3_Missense_Mutation_p.R904T	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	969							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					TTCTCTCTCTCTGTTTAGAAT	0.448												
NR3C2	4306	broad.mit.edu	37	4	149356865	149356865	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:149356865G>A	uc003ilj.3	-	2	1482	c.1148C>T	c.(1147-1149)GCC>GTC	p.A383V	NR3C2_uc003ilk.3_Missense_Mutation_p.A383V|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	383	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATTTGAGATGGCACTCTCTAC	0.478												
MAB21L2	10586	broad.mit.edu	37	4	151504618	151504618	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:151504618G>T	uc003ilw.2	+	1	1542	c.437G>T	c.(436-438)CGG>CTG	p.R146L	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	146					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCAGCTATCGGGATGTGGTC	0.602												
MND1	84057	broad.mit.edu	37	4	154335996	154335996	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:154335996A>G	uc003ink.1	+	8	694	c.605A>G	c.(604-606)GAC>GGC	p.D202G		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	202					DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					GAAGACTTTGACTACATAGAC	0.289												
FGA	2243	broad.mit.edu	37	4	155505924	155505924	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:155505924C>A	uc003iod.1	-	6	2011	c.1953G>T	c.(1951-1953)AAG>AAT	p.K651N		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	651	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATCCCGGTAGCTTGATATTGA	0.393												
RBM46	166863	broad.mit.edu	37	4	155720283	155720283	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:155720283T>C	uc003ioo.2	+	4	1142	c.969T>C	c.(967-969)ATT>ATC	p.I323I	RBM46_uc011cim.1_Silent_p.I323I|RBM46_uc003iop.1_Silent_p.I323I	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	323							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGGTCAGATTAGTCCAAATT	0.393												
GLRB	2743	broad.mit.edu	37	4	158057767	158057767	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:158057767A>C	uc003ipj.2	+	5	646	c.444A>C	c.(442-444)GAA>GAC	p.E148D		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	148	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTGCAAATGAAAAAAGTGCCA	0.393												
SH3RF1	57630	broad.mit.edu	37	4	170043298	170043298	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:170043298T>C	uc003isa.1	-	7	1634	c.1299A>G	c.(1297-1299)GGA>GGG	p.G433G	SH3RF1_uc010irc.1_Silent_p.G133G	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	433						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTCAGTGGATCCTGCCATGG	0.592												
GLRA3	8001	broad.mit.edu	37	4	175598420	175598420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:175598420G>A	uc003ity.1	-	7	1239	c.736C>T	c.(736-738)CGA>TGA	p.R246*	GLRA3_uc003itz.1_Nonsense_Mutation_p.R246*	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	246	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGATGGAATCGCACTTCTATA	0.368												
ODZ3	55714	broad.mit.edu	37	4	183675596	183675596	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:183675596T>C	uc003ivd.1	+	21	4113	c.4076T>C	c.(4075-4077)GTC>GCC	p.V1359A	ODZ3_uc003ive.1_Missense_Mutation_p.V772A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1359	Extracellular (Potential).|NHL 3.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCCATTTATGTCCTGGATAAT	0.438												
ODZ3	55714	broad.mit.edu	37	4	183714994	183714994	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:183714994A>G	uc003ivd.1	+	25	7206	c.7169A>G	c.(7168-7170)AAC>AGC	p.N2390S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2390	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTAGGAATAACAACCCTGCA	0.408												
ENPP6	133121	broad.mit.edu	37	4	185018425	185018425	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:185018425G>A	uc003iwc.2	-	7	1232	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	364	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AAGATGCCCCGCATGTCCATG	0.587												
FAM149A	25854	broad.mit.edu	37	4	187086608	187086608	+	Missense_Mutation	SNP	G	G	A	rs139840598	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:187086608G>A	uc003iyt.3	+	11	1733	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	FAM149A_uc011cla.1_Missense_Mutation_p.R385H|FAM149A_uc003iyu.3_Missense_Mutation_p.R385H|FAM149A_uc010isl.2_Missense_Mutation_p.R385H|FAM149A_uc011clb.1_Missense_Mutation_p.R385H	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	676										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTGGATGCCGCCTTGTTTCT	0.483												
FAT1	2195	broad.mit.edu	37	4	187519138	187519138	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:187519138T>C	uc003izf.2	-	23	12433	c.12245A>G	c.(12244-12246)TAT>TGT	p.Y4082C	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4082	Extracellular (Potential).|EGF-like 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTGACCAGTATATAATCCTCT	0.388										HNSCC(5;0.00058)		
ZFP42	132625	broad.mit.edu	37	4	188924698	188924698	+	Missense_Mutation	SNP	G	G	A	rs147517413	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:188924698G>A	uc003izg.1	+	3	982	c.737G>A	c.(736-738)CGG>CAG	p.R246Q	ZFP42_uc003izh.1_Missense_Mutation_p.R246Q|ZFP42_uc003izi.1_Missense_Mutation_p.R246Q	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	246	C2H2-type 3.				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGCCGTTTCGGTGCACTTTT	0.522												
LRRC14B	389257	broad.mit.edu	37	5	192310	192310	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:192310G>A	uc003jal.1	+	1	685	c.657G>A	c.(655-657)GTG>GTA	p.V219V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	219										skin(1)	1						TGGAGGTGGTGCACAACGTGC	0.706												
SLC6A3	6531	broad.mit.edu	37	5	1416275	1416275	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:1416275G>A	uc003jck.2	-	7	1090	c.969C>T	c.(967-969)GGC>GGT	p.G323G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	323	Helical; Name=6; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CGAACCCCACGCCCAGGGAGA	0.622												
SLC6A3	6531	broad.mit.edu	37	5	1432617	1432617	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:1432617G>A	uc003jck.2	-	4	736	c.615C>T	c.(613-615)AAC>AAT	p.N205N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	205	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAAAAGTGTCGTTGAGGCCCG	0.617												
C5orf38	153571	broad.mit.edu	37	5	2753429	2753429	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:2753429C>A	uc003jdc.2	+	3	481	c.364C>A	c.(364-366)CTG>ATG	p.L122M	C5orf38_uc011cmg.1_Missense_Mutation_p.L122M|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	122						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		AACTGCAGTGCTGTGCTTGAG	0.657												
NSUN2	54888	broad.mit.edu	37	5	6602599	6602599	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:6602599C>T	uc003jdu.2	-	18	2037	c.1972G>A	c.(1972-1974)GTG>ATG	p.V658M	NSUN2_uc003jds.2_Missense_Mutation_p.V104M|NSUN2_uc003jdt.2_Missense_Mutation_p.V422M|NSUN2_uc011cmk.1_Missense_Mutation_p.V623M|NSUN2_uc003jdv.2_Missense_Mutation_p.V422M	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	658						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TACTTCAGCACGATGCTTCCC	0.483												
TRIO	7204	broad.mit.edu	37	5	14462945	14462945	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:14462945G>T	uc003jff.2	+	36	5584	c.5578G>T	c.(5578-5580)GGC>TGC	p.G1860C	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.G1509C|TRIO_uc003jfi.1_Missense_Mutation_p.G163C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1860					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)					AGAAGAGGAAGGCGAGGAGGG	0.622												
CDH6	1004	broad.mit.edu	37	5	31323340	31323340	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:31323340C>T	uc003jhe.1	+	12	2624	c.2298C>T	c.(2296-2298)TAC>TAT	p.Y766Y		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	766	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ACTATGATTACCTTAGTGACT	0.488												
PDZD2	23037	broad.mit.edu	37	5	32074219	32074219	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:32074219C>T	uc003jhl.2	+	18	3395	c.3007C>T	c.(3007-3009)CGT>TGT	p.R1003C	PDZD2_uc003jhm.2_Missense_Mutation_p.R1003C|PDZD2_uc011cnx.1_Missense_Mutation_p.R829C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1003					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGACCCGAGGCGTGTCTCAAT	0.577												
PDZD2	23037	broad.mit.edu	37	5	32091085	32091085	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:32091085A>G	uc003jhl.2	+	20	7919	c.7531A>G	c.(7531-7533)AAA>GAA	p.K2511E	PDZD2_uc003jhm.2_Missense_Mutation_p.K2511E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2511					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CGTGCTCTTCAAAACTGAGCT	0.627												
ADAMTS12	81792	broad.mit.edu	37	5	33535021	33535021	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33535021T>C	uc003jia.1	-	23	4686	c.4523A>G	c.(4522-4524)GAC>GGC	p.D1508G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1423G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1508	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTGGTCTTGGTCTTCAGTTTT	0.483										HNSCC(64;0.19)		
ADAMTS12	81792	broad.mit.edu	37	5	33576948	33576948	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33576948G>A	uc003jia.1	-	19	3346	c.3183C>T	c.(3181-3183)GAC>GAT	p.D1061D	ADAMTS12_uc010iuq.1_Silent_p.D976D	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1061	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCCCACCCAGGTCTCCTTCTT	0.562										HNSCC(64;0.19)		
ADAMTS12	81792	broad.mit.edu	37	5	33614468	33614468	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33614468A>C	uc003jia.1	-	16	2565	c.2402T>G	c.(2401-2403)GTG>GGG	p.V801G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V716G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	801	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGGGTTAGTCACCTGGAATAG	0.438										HNSCC(64;0.19)		
ADAMTS12	81792	broad.mit.edu	37	5	33649727	33649727	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33649727C>A	uc003jia.1	-	8	1429	c.1266G>T	c.(1264-1266)CAG>CAT	p.Q422H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q422H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CGTACTGGAGCTGGCGGGACA	0.552										HNSCC(64;0.19)		
C5orf42	65250	broad.mit.edu	37	5	37142580	37142580	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:37142580G>A	uc011cpa.1	-	43	8533	c.8302C>T	c.(8302-8304)CGT>TGT	p.R2768C	C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.R1286C|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R1861C	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2768										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)			GTCAAAAAACGCACTAATCCA	0.333												
C9	735	broad.mit.edu	37	5	39341801	39341801	+	Missense_Mutation	SNP	A	A	T	rs140251849		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:39341801A>T	uc003jlv.3	-	3	274	c.185T>A	c.(184-186)TTT>TAT	p.F62Y		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	62	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTTGAACGAAACTGCACAAT	0.433												
HEATR7B2	133558	broad.mit.edu	37	5	41070947	41070947	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:41070947A>C	uc003jmj.3	-	1	498	c.8T>G	c.(7-9)CTT>CGT	p.L3R		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	3							binding			ovary(6)|central_nervous_system(2)	8						CTCTGTACTAAGTGTCATGTC	0.398												
C6	729	broad.mit.edu	37	5	41176626	41176626	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:41176626G>A	uc003jmk.2	-	8	1329	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	C6_uc003jml.1_Silent_p.G373G	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	373	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTCATACACGCCTCCCAGGG	0.428												
PIK3R1	5295	broad.mit.edu	37	5	67569823	67569823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:67569823C>T	uc003jva.2	+	4	1044	c.484C>T	c.(484-486)CGA>TGA	p.R162*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.R162*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	162	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.R162*(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGCAGAATTACGACAGCTTCT	0.443			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)		
ZNF366	167465	broad.mit.edu	37	5	71756809	71756809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:71756809G>A	uc003kce.1	-	2	701	c.515C>T	c.(514-516)ACG>ATG	p.T172M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGGTAGGGCGTGGGCAGGAA	0.652												
THBS4	7060	broad.mit.edu	37	5	79331376	79331376	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:79331376G>A	uc003kgh.2	+	2	339	c.16G>A	c.(16-18)GGA>AGA	p.G6R		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	6					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGCCCCGCGCGGAGCCGCCGT	0.761												
THBS4	7060	broad.mit.edu	37	5	79355572	79355572	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:79355572G>A	uc003kgh.2	+	8	1154	c.831G>A	c.(829-831)CCG>CCA	p.P277P		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	277					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGTGCCCCCGGCTCCCCCTG	0.562												
GPR98	84059	broad.mit.edu	37	5	90049480	90049480	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:90049480A>G	uc003kju.2	+	54	11307	c.11211A>G	c.(11209-11211)GTA>GTG	p.V3737V	GPR98_uc003kjt.2_Silent_p.V1443V|GPR98_uc003kjv.2_Silent_p.V1337V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3737	Calx-beta 24.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGTGATTGTAACCCTCACCC	0.393												
GPR98	84059	broad.mit.edu	37	5	90144541	90144541	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:90144541C>T	uc003kju.2	+	79	17203	c.17107C>T	c.(17107-17109)CGC>TGC	p.R5703C	GPR98_uc003kjt.2_Missense_Mutation_p.R3409C|GPR98_uc003kjw.2_Missense_Mutation_p.R1364C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5703	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACCCAAAGCGCAAGGACAC	0.403												
CAST	831	broad.mit.edu	37	5	96086328	96086328	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:96086328C>T	uc003klz.1	+	18	1379	c.1217C>T	c.(1216-1218)GCT>GTT	p.A406V	CAST_uc003klt.2_Missense_Mutation_p.A393V|CAST_uc003klu.2_Missense_Mutation_p.A489V|CAST_uc003klv.2_Missense_Mutation_p.A467V|CAST_uc003klw.2_Missense_Mutation_p.A470V|CAST_uc003klx.2_Missense_Mutation_p.A448V|CAST_uc003kly.2_Missense_Mutation_p.A454V|CAST_uc011cuo.1_Missense_Mutation_p.A452V|CAST_uc011cuq.1_Missense_Mutation_p.A254V|CAST_uc011cur.1_Missense_Mutation_p.A392V|CAST_uc011cus.1_Missense_Mutation_p.A393V|CAST_uc003kma.1_Missense_Mutation_p.A365V|CAST_uc011cut.1_Missense_Mutation_p.A334V|CAST_uc003kmb.2_Missense_Mutation_p.A352V|CAST_uc003kmc.2_Missense_Mutation_p.A406V|CAST_uc003kmd.2_Missense_Mutation_p.A384V|CAST_uc003kme.2_Missense_Mutation_p.A365V|CAST_uc003kmf.2_Missense_Mutation_p.A371V|CAST_uc003kmh.2_Missense_Mutation_p.A121V|CAST_uc010jbj.2_Missense_Mutation_p.A121V|CAST_uc010jbk.2_Missense_Mutation_p.A121V|CAST_uc010jbl.1_Missense_Mutation_p.A129V|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.A129V	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	406							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTGTCGGAGGCTGTGTGTCGG	0.488												
ERAP2	64167	broad.mit.edu	37	5	96244664	96244664	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:96244664G>A	uc003kmq.2	+	14	2723	c.2013_splice	c.e14-1	p.G671_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.G671_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.G620_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTATACTTCAGTGCAGGGAGA	0.363												
RGMB	285704	broad.mit.edu	37	5	98129042	98129042	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:98129042C>T	uc003knc.2	+	5	1424	c.1022C>T	c.(1021-1023)GCC>GTC	p.A341V		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	300					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAAGACCTGGCCATGTCCTAC	0.612												
SRP19	6728	broad.mit.edu	37	5	112203163	112203163	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112203163A>C	uc003kqc.2	+	5	445	c.364A>C	c.(364-366)ACA>CCA	p.T122P	SRP19_uc003kqb.1_3'UTR|SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	122					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GACACAAAAAACAGGAGGTGC	0.308												
MCC	4163	broad.mit.edu	37	5	112406880	112406880	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112406880C>A	uc003kqj.3	-	10	1796	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E612D|MCC_uc011cwb.1_Missense_Mutation_p.E422D|MCC_uc010jcd.1_Missense_Mutation_p.E384D	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	422					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTTTACATTCCTCCAAGGTTA	0.473												
DMXL1	1657	broad.mit.edu	37	5	118560435	118560435	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:118560435G>T	uc003ksd.2	+	37	8427	c.8246G>T	c.(8245-8247)AGA>ATA	p.R2749I	DMXL1_uc010jcl.1_Missense_Mutation_p.R2770I|DMXL1_uc010jcm.1_RNA	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2749	WD 11.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGTTAGAAGAATGACTTCT	0.239												
HSD17B4	3295	broad.mit.edu	37	5	118842530	118842530	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:118842530G>A	uc003ksj.2	+	15	1402	c.1279G>A	c.(1279-1281)GCA>ACA	p.A427T	HSD17B4_uc011cwg.1_Missense_Mutation_p.A403T|HSD17B4_uc011cwh.1_Missense_Mutation_p.A409T|HSD17B4_uc011cwi.1_Missense_Mutation_p.A452T|HSD17B4_uc003ksk.3_Missense_Mutation_p.A280T|HSD17B4_uc011cwj.1_Missense_Mutation_p.A280T|HSD17B4_uc010jcn.1_Missense_Mutation_p.A165T	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	427	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AAAATGTGAAGCAGTTGTTGC	0.274												
SNX24	28966	broad.mit.edu	37	5	122281825	122281825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:122281825C>T	uc011cwo.1	+	3	389	c.220C>T	c.(220-222)CGA>TGA	p.R74*	SNX24_uc003ktf.2_Nonsense_Mutation_p.R74*|SNX24_uc010jcy.2_Nonsense_Mutation_p.R74*	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	SBBI31 protein	74	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTTGGAACAGCGACGACAAGG	0.343												
MEGF10	84466	broad.mit.edu	37	5	126770487	126770487	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:126770487G>A	uc003kuh.3	+	16	2311	c.1949G>A	c.(1948-1950)GGC>GAC	p.G650D	MEGF10_uc003kui.3_Missense_Mutation_p.G650D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	650	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTTGCCTGGCTTCACAGGC	0.627												
FBN2	2201	broad.mit.edu	37	5	127704974	127704974	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:127704974G>A	uc003kuu.2	-	16	2588	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C	FBN2_uc003kuv.2_Missense_Mutation_p.R684C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	717	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGAAAGGACGCACACACACT	0.483												
SHROOM1	134549	broad.mit.edu	37	5	132161101	132161101	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:132161101A>G	uc003kxx.2	-	4	1537	c.732T>C	c.(730-732)GGT>GGC	p.G244G	SHROOM1_uc003kxy.1_Silent_p.G244G	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	244					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGGCCTCACCCAGGCATT	0.677												
VDAC1	7416	broad.mit.edu	37	5	133328039	133328039	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:133328039G>A	uc003kyp.1	-	3	174	c.75C>T	c.(73-75)GGC>GGT	p.G25G	VDAC1_uc003kyq.1_Silent_p.G25G|VDAC1_uc003kyr.1_Silent_p.G25G	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	25					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCTTTATTAAGCCAAATCCTA	0.323												
PCDHA1	56147	broad.mit.edu	37	5	140165992	140165992	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140165992C>A	uc003lhb.2	+	1	117	c.117C>A	c.(115-117)GCC>GCA	p.A39A	PCDHA1_uc003lha.2_Silent_p.A39A|PCDHA1_uc003lgz.2_Silent_p.A39A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	39	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGAAGCCAAACACGGCA	0.667												
PCDHA1	56147	broad.mit.edu	37	5	140167380	140167380	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140167380G>A	uc003lhb.2	+	1	1505	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PCDHA1_uc003lha.2_Missense_Mutation_p.R502H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R502H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCGCGCTGTCG	0.682												
PCDHA9	9752	broad.mit.edu	37	5	140229448	140229448	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140229448G>A	uc003lhu.2	+	1	2092	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	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_uc003lht.1_Silent_p.A456A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	456	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGTTCGCGCAGTCCGAGT	0.672												
PCDHA12	56137	broad.mit.edu	37	5	140256412	140256412	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140256412C>T	uc003lic.2	+	1	1482	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A452V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCTGCGTTC	0.662												
PCDHA12	56137	broad.mit.edu	37	5	140257112	140257112	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140257112C>T	uc003lic.2	+	1	2182	c.2055C>T	c.(2053-2055)GGC>GGT	p.G685G	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.G685G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	685	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGTGGGCGCTGTGGATC	0.647												
PCDHA13	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140263877C>T	uc003lif.2	+	1	2024	c.2024C>T	c.(2023-2025)GCG>GTG	p.A675V	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A675V|PCDHA13_uc003lid.2_Missense_Mutation_p.A675V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	675	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A675V(1)		ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662												
PCDHB4	56131	broad.mit.edu	37	5	140502247	140502247	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140502247G>A	uc003lip.1	+	1	667	c.667G>A	c.(667-669)GGC>AGC	p.G223S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	223	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTAGGTCTGGCACGGTCAT	0.542												
PCDHB4	56131	broad.mit.edu	37	5	140503476	140503476	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140503476C>T	uc003lip.1	+	1	1896	c.1896C>T	c.(1894-1896)CGC>CGT	p.R632R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	632	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.682												
PCDHB6	56130	broad.mit.edu	37	5	140531428	140531428	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140531428C>T	uc003lir.2	+	1	1590	c.1590C>T	c.(1588-1590)GGC>GGT	p.G530G	PCDHB6_uc011dah.1_Silent_p.G394G	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	530	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.662												
PCDHB7	56129	broad.mit.edu	37	5	140554058	140554058	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140554058C>T	uc003lit.2	+	1	1816	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	548	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.721												
PCDHB9	56127	broad.mit.edu	37	5	140568765	140568765	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140568765G>A	uc003liw.1	+	3	1874	c.1874G>A	c.(1873-1875)CGC>CAC	p.R625H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	625	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAGGTGCGCACCGCCAGG	0.692												
PCDHB12	56124	broad.mit.edu	37	5	140589394	140589394	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140589394A>G	uc003liz.2	+	1	1104	c.915A>G	c.(913-915)GCA>GCG	p.A305A	PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	305	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTAACAGCACCTTTGGATT	0.378												
PCDHGA3	56112	broad.mit.edu	37	5	140725577	140725577	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140725577G>A	uc003ljm.1	+	1	1977	c.1977G>A	c.(1975-1977)ACG>ACA	p.T659T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T419T|PCDHGA3_uc011dap.1_Silent_p.T659T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	659	Extracellular (Potential).|Cadherin 6.				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)			CCACTGTCACGCTCACCGTGG	0.692												
PCDHGA4	56111	broad.mit.edu	37	5	140734936	140734936	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140734936C>T	uc003ljq.1	+	1	169	c.169C>T	c.(169-171)CGG>TGG	p.R57W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R57W	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	57	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGCGCCCCGGGAGCTGGC	0.637												
PCDHGA5	56110	broad.mit.edu	37	5	140746034	140746034	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140746034G>A	uc003lju.1	+	1	2137	c.2137G>A	c.(2137-2139)GTG>ATG	p.V713M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V713M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	713	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGCTGGTGCTCAGACT	0.622												
PCDHGB3	56102	broad.mit.edu	37	5	140752045	140752045	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140752045C>T	uc003ljw.1	+	1	2084	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A695V|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	695	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGTAGTGGCGTTGGCCTTG	0.572												
PCDHGA7	56108	broad.mit.edu	37	5	140763070	140763070	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140763070C>T	uc003lka.1	+	1	604	c.604C>T	c.(604-606)CGG>TGG	p.R202W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R202W	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	202	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGACCGGGAGGAAGA	0.622												
PCDHGA10	56106	broad.mit.edu	37	5	140793318	140793318	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140793318C>T	uc003lkl.1	+	1	576	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.G192G	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	192	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAATGGCGTCAAGTACC	0.597												
PCDHGA11	56105	broad.mit.edu	37	5	140802457	140802457	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140802457G>A	uc003lkq.1	+	1	1921	c.1663G>A	c.(1663-1665)GAC>AAC	p.D555N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D555N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.D555N	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGCTGGACCAGAACGA	0.627												
PCDHGC4	56098	broad.mit.edu	37	5	140866670	140866670	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140866670G>A	uc003lky.1	+	1	1930	c.1930G>A	c.(1930-1932)GTC>ATC	p.V644I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.V644I|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	644	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAGCTGGTCATTGTGGT	0.542												
PCDH12	51294	broad.mit.edu	37	5	141335926	141335926	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:141335926G>C	uc003llx.2	-	1	2702	c.1491C>G	c.(1489-1491)TAC>TAG	p.Y497*		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	497	Extracellular (Potential).|Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGATGCGGTATGAGACTT	0.493												
ARHGAP26	23092	broad.mit.edu	37	5	142586820	142586820	+	Silent	SNP	G	G	A	rs79503222		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:142586820G>A	uc011dbj.1	+	21	2081	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	ARHGAP26_uc003lmt.2_Silent_p.A682A|ARHGAP26_uc003lmw.2_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	682	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTCTCGGCGCCATCCAGCC	0.557												
PLAC8L1	153770	broad.mit.edu	37	5	145465117	145465117	+	Silent	SNP	G	G	A	rs142846473	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:145465117G>A	uc003lnv.2	-	3	372	c.300C>T	c.(298-300)ATC>ATT	p.I100I	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	100											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGCCTGGCGATGTCACACT	0.458												
RBM27	54439	broad.mit.edu	37	5	145651091	145651091	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:145651091T>C	uc003lnz.3	+	19	3008	c.2842T>C	c.(2842-2844)TCC>CCC	p.S948P		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	948					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGACCATGTCCTCTCAAGG	0.468												
PDGFRB	5159	broad.mit.edu	37	5	149498325	149498325	+	Silent	SNP	G	G	A	rs139623802	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149498325G>A	uc003lro.2	-	21	3358	c.2889C>T	c.(2887-2889)GGC>GGT	p.G963G	PDGFRB_uc010jhd.2_Silent_p.G802G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	963	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTAACCTTCGCCCAACAGTC	0.552			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
PDGFRB	5159	broad.mit.edu	37	5	149511617	149511617	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149511617C>T	uc003lro.2	-	8	1637	c.1168G>A	c.(1168-1170)GAG>AAG	p.E390K	PDGFRB_uc010jhd.2_Missense_Mutation_p.E229K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	390	Ig-like C2-type 4.|Extracellular (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCCAGCCTCTGCCACCTTC	0.433			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
NDST1	3340	broad.mit.edu	37	5	149927859	149927859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149927859C>T	uc003lsk.3	+	12	2727	c.2225C>T	c.(2224-2226)TCG>TTG	p.S742L	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	742	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGCATCCTCGAAGCTGCGT	0.622												
DCTN4	51164	broad.mit.edu	37	5	150090922	150090922	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:150090922A>G	uc003lsv.2	-	13	1274	c.1172T>C	c.(1171-1173)ATT>ACT	p.I391T	DCTN4_uc003lsu.2_Missense_Mutation_p.I334T|DCTN4_uc010jhi.2_Missense_Mutation_p.I398T	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	391						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGCTATAATGCTATGGAA	0.383												
ITK	3702	broad.mit.edu	37	5	156649962	156649962	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:156649962C>T	uc003lwo.1	+	6	667	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	195	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCGGCGCAACGAAGAGTACT	0.522			T	SYK	peripheral T-cell lymphoma							
ADRA1B	147	broad.mit.edu	37	5	159344849	159344849	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159344849G>T	uc003lxt.1	+	1	1110	c.937G>T	c.(937-939)GCT>TCT	p.A313S		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	313	Helical; Name=6; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTTCTTCATCGCTCTACCGCT	0.463												
CCNJL	79616	broad.mit.edu	37	5	159707555	159707555	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159707555G>A	uc003lyb.1	-	3	509	c.257C>T	c.(256-258)GCC>GTC	p.A86V	CCNJL_uc011dee.1_Missense_Mutation_p.A86V|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Missense_Mutation_p.A86V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	86	Cyclin N-terminal.					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)			GCAGGAGACGGCCACGGTGTA	0.617												
PTTG1	9232	broad.mit.edu	37	5	159854859	159854859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159854859C>T	uc003lyj.2	+	5	553	c.508C>T	c.(508-510)CCC>TCC	p.P170S	PTTG1_uc003lyk.2_Missense_Mutation_p.P170S	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	170	SH3-binding.			PSPP->LSAL: Strongly reduces transforming capability; when associated with A-163.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				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)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TGTGAAGATGCCCTCTCCACC	0.517												
ATP10B	23120	broad.mit.edu	37	5	160033846	160033846	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:160033846C>T	uc003lym.1	-	19	3933	c.3086G>A	c.(3085-3087)CGC>CAC	p.R1029H	ATP10B_uc010jit.1_Missense_Mutation_p.R346H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1029	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGCGTGGAGCGGCAGCACAG	0.512												
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:168244398G>A	uc003mab.2	-	8	1120	c.700C>T	c.(700-702)CGG>TGG	p.R234W	SLIT3_uc010jjg.2_Missense_Mutation_p.R234W|SLIT3_uc010jji.2_Missense_Mutation_p.R234W|SLIT3_uc003mac.1_Missense_Mutation_p.R31W	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	234	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTGTCCGTCGCTGTCGC	0.612												
KCNIP1	30820	broad.mit.edu	37	5	170147330	170147330	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:170147330C>T	uc003mas.2	+	4	754	c.225C>T	c.(223-225)TGC>TGT	p.C75C	KCNIP1_uc003map.2_Silent_p.C73C|KCNIP1_uc003mat.2_Silent_p.C64C|KCNIP1_uc010jjp.2_Silent_p.C36C|KCNIP1_uc010jjq.2_Silent_p.C64C	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	75	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAGGAGTGCCCCAGTGGTG	0.552												
STK10	6793	broad.mit.edu	37	5	171482726	171482726	+	Missense_Mutation	SNP	G	G	A	rs140431437		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171482726G>A	uc003mbo.1	-	16	2692	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	798	Gln-rich.|Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTTGCTGCCGCACCTTCAGC	0.612												
STK10	6793	broad.mit.edu	37	5	171509350	171509350	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171509350G>A	uc003mbo.1	-	12	2269	c.1969C>T	c.(1969-1971)CTC>TTC	p.L657F		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	657	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCAGTTTGAGCTGCTCTTGG	0.478												
SH3PXD2B	285590	broad.mit.edu	37	5	171765430	171765430	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171765430G>A	uc003mbr.2	-	13	2850	c.2679C>T	c.(2677-2679)AGC>AGT	p.S893S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	893	SH3 4.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGGGGCTCCGCTCAGGACCT	0.572												
CPEB4	80315	broad.mit.edu	37	5	173317794	173317794	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:173317794C>T	uc003mcs.3	+	1	2464	c.1058C>T	c.(1057-1059)TCT>TTT	p.S353F	CPEB4_uc010jju.1_Missense_Mutation_p.S353F|CPEB4_uc010jjv.2_Missense_Mutation_p.S353F|CPEB4_uc011dfg.1_Missense_Mutation_p.S353F|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	353							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCCCCAGCTCTGCCTTTGCA	0.438												
SLC34A1	6569	broad.mit.edu	37	5	176813055	176813055	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:176813055G>A	uc003mgk.3	+	3	278	c.177G>A	c.(175-177)GAG>GAA	p.E59E		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	59	Cytoplasmic (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTGCTGAGCACACCTGCC	0.692												
SLC34A1	6569	broad.mit.edu	37	5	176815130	176815130	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:176815130C>T	uc003mgk.3	+	7	881	c.780C>T	c.(778-780)GGC>GGT	p.G260G		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	260	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602												
B4GALT7	11285	broad.mit.edu	37	5	177031391	177031391	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:177031391G>A	uc003mhy.2	+	2	302	c.262G>A	c.(262-264)GCA>ACA	p.A88T	B4GALT7_uc003mhz.2_5'UTR	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	88	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAAGACGCATCCTGGGG	0.711												
HNRNPAB	3182	broad.mit.edu	37	5	177634161	177634161	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:177634161T>G	uc003miu.2	+	5	861	c.604T>G	c.(604-606)TTT>GTT	p.F202V	HNRNPAB_uc003miv.2_Missense_Mutation_p.F202V|HNRNPAB_uc010jks.2_Missense_Mutation_p.F202V|HNRNPAB_uc003miw.2_Missense_Mutation_p.F202V|HNRNPAB_uc003mix.2_Missense_Mutation_p.F202V	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	202	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						GTTTATCACCTTTAAAGAAGA	0.448												
ZNF454	285676	broad.mit.edu	37	5	178373448	178373448	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178373448A>G	uc003mjo.1	+	3	393	c.122A>G	c.(121-123)GAC>GGC	p.D41G	ZNF454_uc010jkz.1_Missense_Mutation_p.D41G|ZNF454_uc003mjp.2_Silent_p.G76G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTGTACAGGGACGTGATGCTG	0.552												
ADAMTS2	9509	broad.mit.edu	37	5	178581820	178581820	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178581820G>A	uc003mjw.2	-	7	1233	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	ADAMTS2_uc011dgm.1_Silent_p.G411G	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	411	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTACACGTGGCCAGTCTCAT	0.637												
ADAMTS2	9509	broad.mit.edu	37	5	178585791	178585791	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178585791G>A	uc003mjw.2	-	6	1065	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	ADAMTS2_uc011dgm.1_Silent_p.G355G	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTCATCGTGGCCCGTGTCTG	0.617												
TBC1D9B	23061	broad.mit.edu	37	5	179290598	179290598	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:179290598C>T	uc003mlh.2	-	22	3640	c.3603G>A	c.(3601-3603)GAG>GAA	p.E1201E	TBC1D9B_uc003mli.2_Silent_p.E1184E|TBC1D9B_uc003mlj.2_Silent_p.E1183E|TBC1D9B_uc003mlf.2_Silent_p.E275E|TBC1D9B_uc003mlg.2_Silent_p.E360E|TBC1D9B_uc011dgv.1_Silent_p.E360E	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1201						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGATCTGCTCAAAGGAGA	0.587												
FLT4	2324	broad.mit.edu	37	5	180048661	180048661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180048661G>A	uc003mma.3	-	13	1980	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	FLT4_uc003mlz.3_Missense_Mutation_p.A634V|FLT4_uc003mmb.1_Missense_Mutation_p.A167V|FLT4_uc011dgy.1_Missense_Mutation_p.A634V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	634	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGAGCGTGGCGTGGCGCGC	0.677									Congenital_Hereditary_Lymphedema			
OR2V2	285659	broad.mit.edu	37	5	180582844	180582844	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180582844C>A	uc011dhj.1	+	1	902	c.902C>A	c.(901-903)GCA>GAA	p.A301E		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATGGGGGCACTGAGGAAG	0.493												
TRIM7	81786	broad.mit.edu	37	5	180622613	180622613	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180622613G>A	uc003mmz.1	-	7	1156	c.1089C>T	c.(1087-1089)GGC>GGT	p.G363G	TRIM7_uc003mmv.1_Silent_p.G181G|TRIM7_uc003mmw.1_Silent_p.G155G|TRIM7_uc003mmx.1_Silent_p.G155G|TRIM7_uc003mmy.1_Silent_p.G155G	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	363	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGAGGCGCACGCCCTTAAGAT	0.677												
IRF4	3662	broad.mit.edu	37	6	405052	405052	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:405052G>A	uc003msz.3	+	8	1247	c.1134G>A	c.(1132-1134)CTG>CTA	p.L378L	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.L377L	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	378					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCCGCTCCCTGCCAAGATTCC	0.517			T	IGH@	MM 							
HUS1B	135458	broad.mit.edu	37	6	656858	656858	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:656858G>T	uc003mtg.2	-	1	107	c.87C>A	c.(85-87)GTC>GTA	p.V29V	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	29											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGAGCACGCAGACCTTCGCTA	0.667												
TUBB2B	347733	broad.mit.edu	37	6	3225000	3225000	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:3225000G>A	uc003mvg.2	-	4	1514	c.1323C>T	c.(1321-1323)GGC>GGT	p.G441G	TUBB2B_uc010jnj.2_Silent_p.G404G|TUBB2B_uc010jnk.2_Silent_p.G369G|TUBB2B_uc003mvh.2_Silent_p.G414G|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	441					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCTCGTCCTCGCCCTCCTCCT	0.647												
C6orf146	222826	broad.mit.edu	37	6	4069126	4069126	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:4069126A>C	uc003mvx.2	-	7	1671	c.1331T>G	c.(1330-1332)GTT>GGT	p.V444G	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.V381G	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	444										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TATAGGTGAAACTGGCATTGG	0.398												
ALDH5A1	7915	broad.mit.edu	37	6	24523088	24523088	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24523088G>A	uc003neg.2	+	7	1136	c.1108G>A	c.(1108-1110)GTA>ATA	p.V370I	ALDH5A1_uc003nef.2_Missense_Mutation_p.V383I	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	370					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAACCTGCGCGTAGGTAATGG	0.408												
FAM65B	9750	broad.mit.edu	37	6	24843458	24843458	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24843458C>T	uc003neo.1	-	14	1728	c.1552G>A	c.(1552-1554)GCT>ACT	p.A518T	FAM65B_uc011djs.1_Missense_Mutation_p.A497T|FAM65B_uc011dju.1_Missense_Mutation_p.A502T|FAM65B_uc003nep.2_Missense_Mutation_p.A468T|FAM65B_uc011djt.1_Missense_Mutation_p.A468T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	518					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						CGGCGGCAAGCCTCAGATGGG	0.577												
SLC17A2	10246	broad.mit.edu	37	6	25921306	25921306	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:25921306C>A	uc011dkb.1	-	4	573	c.490G>T	c.(490-492)GGT>TGT	p.G164C	SLC17A2_uc011dkc.1_Missense_Mutation_p.G164C|SLC17A2_uc003nfl.2_Missense_Mutation_p.G164C			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	164					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GTAAACTGACCTGTCCATGCC	0.428												
HIST1H2AH	85235	broad.mit.edu	37	6	27114952	27114952	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:27114952C>T	uc003niz.2	+	1	45	c.45C>T	c.(43-45)GCC>GCT	p.A15A	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	15					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGCCAAGGCCAAGACCCGCT	0.602												
TCF19	6941	broad.mit.edu	37	6	31127381	31127381	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31127381G>A	uc003nss.2	+	2	659	c.135G>A	c.(133-135)CGG>CGA	p.R45R	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Silent_p.R45R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	45	FHA.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGGCCCTGCGGCCCCAGCAGG	0.692												
BAT2	7916	broad.mit.edu	37	6	31599862	31599862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31599862G>A	uc003nvb.3	+	16	3661	c.3412G>A	c.(3412-3414)GCT>ACT	p.A1138T	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.A1138T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1138	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GGTCCCTCTCGCTCCCCCACC	0.662												
BAT5	7920	broad.mit.edu	37	6	31668763	31668763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31668763G>A	uc003nvy.1	-	4	329	c.299C>T	c.(298-300)GCT>GTT	p.A100V	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.A67V|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	100	Helical; (Potential).					integral to membrane	hydrolase activity|protein binding				0						CAATGTCCCAGCATAGTGAGA	0.512												
FKBPL	63943	broad.mit.edu	37	6	32097117	32097117	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32097117G>A	uc003nzr.2	-	2	711	c.441C>T	c.(439-441)GGC>GGT	p.G147G	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	147					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						ATGGCCCTACGCCCATAGTTA	0.577												
AGPAT1	10554	broad.mit.edu	37	6	32137062	32137062	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32137062G>A	uc003oae.2	-	7	1161	c.843C>T	c.(841-843)GGC>GGT	p.G281G	PPT2_uc003nzy.1_Intron|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.G245G|AGPAT1_uc003oaf.2_Silent_p.G281G|AGPAT1_uc003oag.2_Silent_p.G171G|AGPAT1_uc003oah.2_Silent_p.G281G|AGPAT1_uc003oai.1_Silent_p.G281G|AGPAT1_uc011dpl.1_Silent_p.G169G	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	281					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						TTCACCCACCGCCCCCAGGCT	0.612												
NOTCH4	4855	broad.mit.edu	37	6	32188990	32188990	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32188990G>A	uc003obb.2	-	4	703	c.564C>T	c.(562-564)GGC>GGT	p.G188G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.G188G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	188	Extracellular (Potential).|EGF-like 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CACAGGCATGGCCCTCGAAGC	0.602												
BRD2	6046	broad.mit.edu	37	6	32947641	32947641	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32947641C>A	uc003ocn.3	+	11	3579	c.1878C>A	c.(1876-1878)GCC>GCA	p.A626A	BRD2_uc003ocq.3_Silent_p.A626A|BRD2_uc003ocp.3_Silent_p.A506A|BRD2_uc010juh.2_Silent_p.A661A	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	626					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCACCTGCCCTGCCTACAG	0.512												
ITPR3	3710	broad.mit.edu	37	6	33658863	33658863	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:33658863G>T	uc011drk.1	+	52	7421	c.7202G>T	c.(7201-7203)CGG>CTG	p.R2401L	ITPR3_uc003oey.2_Missense_Mutation_p.R488L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2401	Extracellular (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						GAGGTCGACCGGCTGCCCAAC	0.582												
GLP1R	2740	broad.mit.edu	37	6	39041466	39041466	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:39041466C>T	uc003ooj.3	+	7	804	c.744C>T	c.(742-744)GGC>GGT	p.G248G	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	248	Helical; Name=3; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TGGTGGAGGGCGTGTACCTGT	0.567												
MOCS1	4337	broad.mit.edu	37	6	39895114	39895114	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:39895114C>A	uc003opb.2	-	1	342	c.204G>T	c.(202-204)CAG>CAT	p.Q68H	MOCS1_uc003opa.2_Missense_Mutation_p.Q68H|MOCS1_uc003opc.2_Missense_Mutation_p.Q68H|MOCS1_uc003opd.2_Missense_Mutation_p.Q68H|MOCS1_uc003ope.2_Intron	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	68	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTAGCTGTGCTGCCGGCCGA	0.637												
FRS3	10817	broad.mit.edu	37	6	41738915	41738915	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:41738915C>T	uc003orc.1	-	7	1165	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	307					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTCCAGCCCGGCTCCTCTG	0.687												
TRERF1	55809	broad.mit.edu	37	6	42231075	42231075	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:42231075C>T	uc003osd.2	-	8	2430	c.1867G>A	c.(1867-1869)GAC>AAC	p.D623N	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.D623N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	623	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCATCTCGTCGTCCGACATC	0.662												
CUL9	23113	broad.mit.edu	37	6	43154154	43154154	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:43154154C>T	uc003ouk.2	+	4	1287	c.1212C>T	c.(1210-1212)GGC>GGT	p.G404G	CUL9_uc003ouj.1_Silent_p.G404G|CUL9_uc003oul.2_Silent_p.G404G|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	404					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGGACGAGGGCGAGTTCCGGC	0.582												
TDRD6	221400	broad.mit.edu	37	6	46660831	46660831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:46660831G>T	uc003oyj.2	+	1	4966	c.4966G>T	c.(4966-4968)GAA>TAA	p.E1656*	TDRD6_uc010jze.2_Nonsense_Mutation_p.E1650*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1656					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTATTTCTATGAAATAATAAC	0.363												
TDRD6	221400	broad.mit.edu	37	6	46661433	46661433	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:46661433A>G	uc003oyj.2	+	1	5568	c.5568A>G	c.(5566-5568)TTA>TTG	p.L1856L	TDRD6_uc010jze.2_Silent_p.L1850L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1856					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTATTGAGTTACAGAATTCTC	0.453												
GFRAL	389400	broad.mit.edu	37	6	55196524	55196524	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:55196524A>C	uc003pcm.1	+	2	120	c.34A>C	c.(34-36)AGC>CGC	p.S12R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	12						integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TATGGGGTTAAGCTTGGAAAA	0.318												
HMGCLL1	54511	broad.mit.edu	37	6	55406891	55406891	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:55406891T>G	uc003pcn.2	-	3	405	c.246A>C	c.(244-246)GAA>GAC	p.E82D	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52D|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52D|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAGGCCCAACTTCTACTATTT	0.313												
DST	667	broad.mit.edu	37	6	56420259	56420259	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:56420259G>A	uc003pdf.2	-	54	8691	c.8663C>T	c.(8662-8664)GCC>GTC	p.A2888V	DST_uc003pcz.3_Missense_Mutation_p.A2710V|DST_uc011dxj.1_Missense_Mutation_p.A2739V|DST_uc011dxk.1_Missense_Mutation_p.A2750V|DST_uc003pcy.3_Missense_Mutation_p.A2384V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4796					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTGCCTGGGCCACTTTTAT	0.438												
EYS	346007	broad.mit.edu	37	6	66204765	66204765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:66204765G>T	uc011dxu.1	-	4	1077	c.539C>A	c.(538-540)TCA>TAA	p.S180*	EYS_uc003peq.2_Nonsense_Mutation_p.S180*|EYS_uc003per.1_Nonsense_Mutation_p.S180*|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	180	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GCAAAATTCTGAACTCAGAGA	0.438												
BAI3	577	broad.mit.edu	37	6	70037717	70037717	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:70037717C>A	uc003pev.3	+	22	3419	c.2971C>A	c.(2971-2973)CCA>ACA	p.P991T	BAI3_uc010kak.2_Missense_Mutation_p.P991T|BAI3_uc011dxx.1_Missense_Mutation_p.P197T|BAI3_uc003pex.1_Missense_Mutation_p.P121T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	991	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGCAGGTTTACCAGCATTAGT	0.393												
FAM135A	57579	broad.mit.edu	37	6	71235709	71235709	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:71235709A>G	uc003pfj.2	+	13	3055	c.2922A>G	c.(2920-2922)TTA>TTG	p.L974L	FAM135A_uc003pfi.2_Silent_p.L778L|FAM135A_uc003pfh.2_Silent_p.L761L|FAM135A_uc003pfl.2_Silent_p.L641L|FAM135A_uc003pfn.2_Silent_p.L180L|FAM135A_uc003pfo.1_Silent_p.L345L|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	974										central_nervous_system(1)	1						TGATTTGTTTAGGCACTCCTT	0.328												
C6orf150	115004	broad.mit.edu	37	6	74161472	74161472	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:74161472C>G	uc003pgx.1	-	1	572	c.433G>C	c.(433-435)GGC>CGC	p.G145R		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	145											0						ACCGGCAGGCCGGGGCTGGGC	0.706												
SENP6	26054	broad.mit.edu	37	6	76412665	76412665	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:76412665A>C	uc003pid.3	+	19	3212	c.2593A>C	c.(2593-2595)AAT>CAT	p.N865H	SENP6_uc003pie.3_Missense_Mutation_p.N858H|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	865	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAAAAAATAAATCATACTGC	0.363												
HTR1B	3351	broad.mit.edu	37	6	78172572	78172572	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:78172572C>T	uc003pil.1	-	1	549	c.549G>A	c.(547-549)CCG>CCA	p.P183P		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	183	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGAAGAAGGGCGGCAGCGAGA	0.597												
HMGN3	9324	broad.mit.edu	37	6	79918293	79918293	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:79918293G>A	uc003pit.2	-	3	245	c.67C>T	c.(67-69)CCC>TCC	p.P23S	HMGN3_uc003pis.2_Missense_Mutation_p.P23S|HMGN3_uc003piu.1_Missense_Mutation_p.P23S	NM_004242	NP_004233	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	23					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding				0		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		CGTCTTGTGGGCTACAAAGGG	0.353												
MDN1	23195	broad.mit.edu	37	6	90377778	90377778	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90377778G>A	uc003pnn.1	-	84	14165	c.14049C>T	c.(14047-14049)GGC>GGT	p.G4683G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4683					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			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)		TCATGCCCTCGCCTTCTCCAA	0.438												
MDN1	23195	broad.mit.edu	37	6	90428516	90428516	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90428516A>T	uc003pnn.1	-	42	6407	c.6291T>A	c.(6289-6291)GAT>GAA	p.D2097E		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2097					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			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)		GCTCAGTAGTATCCATTGCAC	0.507												
BACH2	60468	broad.mit.edu	37	6	90642334	90642334	+	Silent	SNP	G	G	A	rs150771521	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90642334G>A	uc011eab.1	-	9	3128	c.2319C>T	c.(2317-2319)GGC>GGT	p.G773G	BACH2_uc003pnw.2_Silent_p.G773G	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	773						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGAGCCGCGCCTGGCTCCA	0.637												
LACE1	246269	broad.mit.edu	37	6	108723201	108723201	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:108723201T>A	uc003psj.2	+	7	936	c.750T>A	c.(748-750)GAT>GAA	p.D250E		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	250							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTCTTTCAGATCTCTATAAAA	0.279												
MARCKS	4082	broad.mit.edu	37	6	114181338	114181338	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:114181338C>T	uc003pvy.3	+	2	977	c.582C>T	c.(580-582)GAC>GAT	p.D194D		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	194					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		gcggcaaggacgaggccgccg	0.254												
TAAR5	9038	broad.mit.edu	37	6	132910413	132910413	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:132910413T>G	uc003qdk.2	-	1	465	c.413A>C	c.(412-414)GAC>GCC	p.D138A		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	138	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAGCAGGGGGTCACAGATGGC	0.562												
TAAR5	9038	broad.mit.edu	37	6	132910785	132910785	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:132910785G>A	uc003qdk.2	-	1	93	c.41C>T	c.(40-42)GCG>GTG	p.A14V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	14	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGAATGCCGCAGGGTGCTC	0.522												
UTRN	7402	broad.mit.edu	37	6	144759958	144759958	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:144759958G>A	uc003qkt.2	+	11	1411	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	UTRN_uc010khq.1_Missense_Mutation_p.R440H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	440	Interaction with SYNM.|Spectrin 3.				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)		ACAGAGGAGCGCATTCAGAAG	0.463												
UTRN	7402	broad.mit.edu	37	6	145156929	145156929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:145156929G>A	uc003qkt.2	+	69	9771	c.9679G>A	c.(9679-9681)GCC>ACC	p.A3227T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3227					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)		AGACGAGCACGCCCTCATCCA	0.512												
GRM1	2911	broad.mit.edu	37	6	146720510	146720510	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:146720510G>A	uc010khw.1	+	8	2805	c.2335G>A	c.(2335-2337)GCC>ACC	p.A779T	GRM1_uc010khv.1_Missense_Mutation_p.A779T|GRM1_uc003qll.2_Missense_Mutation_p.A779T|GRM1_uc011edz.1_Missense_Mutation_p.A779T|GRM1_uc011eea.1_Missense_Mutation_p.A779T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	779	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAACGTGCCCGCCAACTTCAA	0.507												
SYNE1	23345	broad.mit.edu	37	6	152644683	152644683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:152644683C>T	uc010kiw.2	-	82	16449	c.15847G>A	c.(15847-15849)GCC>ACC	p.A5283T	SYNE1_uc003qot.3_Missense_Mutation_p.A5212T|SYNE1_uc003qou.3_Missense_Mutation_p.A5283T|SYNE1_uc010kiz.2_Missense_Mutation_p.A1038T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5283	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGGGGCGGCTCCATCCTGG	0.552										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152646295	152646295	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:152646295C>T	uc010kiw.2	-	81	16183	c.15581G>A	c.(15580-15582)CGC>CAC	p.R5194H	SYNE1_uc003qot.3_Missense_Mutation_p.R5123H|SYNE1_uc003qou.3_Missense_Mutation_p.R5194H|SYNE1_uc010kiz.2_Missense_Mutation_p.R949H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5194	Spectrin 16.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCGAAGGCGTGTCCAGCG	0.552										HNSCC(10;0.0054)		
TFB1M	51106	broad.mit.edu	37	6	155606374	155606374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:155606374C>T	uc003qqj.3	-	5	648	c.584G>A	c.(583-585)CGC>CAC	p.R195H	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AACAGAGAGGCGACTACGCTG	0.413												
RSPH3	83861	broad.mit.edu	37	6	159401964	159401964	+	Missense_Mutation	SNP	C	C	T	rs149769974		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:159401964C>T	uc003qrx.2	-	6	1317	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	RSPH3_uc010kju.2_Missense_Mutation_p.R280Q	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	376	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTTCTTACGCCGTTCCTGCCA	0.468												
MLLT4	4301	broad.mit.edu	37	6	168273011	168273011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:168273011C>T	uc003qwd.2	+	4	671	c.529C>T	c.(529-531)CGA>TGA	p.R177*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.R177*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.R178*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	178	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agagGCATTGCGACAGGCATC	0.338			T	MLL	AL							
DLL1	28514	broad.mit.edu	37	6	170592753	170592753	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:170592753G>A	uc003qxm.2	-	9	2084	c.1614C>T	c.(1612-1614)GGC>GGT	p.G538G		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	538	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GCCCGCCCTGGCCCTCTAGCT	0.701												
UNCX	340260	broad.mit.edu	37	7	1275539	1275539	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:1275539G>A	uc011jvw.1	+	3	522	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	174					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGCGGCCGGCGCACAACTCGC	0.642												
INTS1	26173	broad.mit.edu	37	7	1539932	1539932	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:1539932G>A	uc003skn.2	-	4	521	c.420C>T	c.(418-420)GGC>GGT	p.G140G	INTS1_uc003skq.2_Silent_p.G140G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	140					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCACAGCACGCCCTCGATCC	0.652												
AMZ1	155185	broad.mit.edu	37	7	2740115	2740115	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:2740115C>T	uc003smr.1	+	2	391	c.30C>T	c.(28-30)TTC>TTT	p.F10F	AMZ1_uc003sms.1_Silent_p.F10F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	10							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CACAGGAGTTCAGCTTCGGGC	0.692												
ACTB	60	broad.mit.edu	37	7	5569018	5569018	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:5569018C>A	uc003sos.3	-	2	173	c.137G>T	c.(136-138)GGC>GTC	p.G46V	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.G46V|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	46					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTGACCCATGCCCACCATCAC	0.627												
C7orf26	79034	broad.mit.edu	37	7	6639900	6639900	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:6639900G>A	uc003sqo.1	+	4	1021	c.1021G>A	c.(1021-1023)GCC>ACC	p.A341T	C7orf26_uc003sqp.1_Missense_Mutation_p.A244T|C7orf26_uc003sqq.1_Missense_Mutation_p.A142T	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	341										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CCCCCTCAACGCCTCCCAGGA	0.627												
THSD7A	221981	broad.mit.edu	37	7	11514158	11514158	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:11514158T>G	uc003ssf.3	-	8	2307	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	685	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGCTTCGTACTTCTTGCAAAG	0.468										HNSCC(18;0.044)		
DGKB	1607	broad.mit.edu	37	7	14722438	14722438	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:14722438A>G	uc003ssz.2	-	10	1045	c.858T>C	c.(856-858)TGT>TGC	p.C286C	DGKB_uc011jxt.1_Silent_p.C279C|DGKB_uc003sta.2_Silent_p.C286C|DGKB_uc011jxu.1_Silent_p.C286C	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	286	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	CTCGAGCCACACAGCGCTCAT	0.448												
ABCB5	340273	broad.mit.edu	37	7	20778637	20778637	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TGGAGCTATGGCCATCGGAGA	0.403												
ABCB5	340273	broad.mit.edu	37	7	20778696	20778696	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:20778696G>A	uc003suw.3	+	15	2169	c.1623G>A	c.(1621-1623)GCG>GCA	p.A541A	ABCB5_uc010kuh.2_Silent_p.A986A	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	541	Cytoplasmic (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CGGGGGCTGCGCATCTGTTTG	0.428												
DNAH11	8701	broad.mit.edu	37	7	21628211	21628211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:21628211C>T	uc003svc.2	+	11	1961	c.1930C>T	c.(1930-1932)CGA>TGA	p.R644*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	644	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GGTTCTCCAACGACTTCAAAT	0.393									Kartagener_syndrome			
HOXA7	3204	broad.mit.edu	37	7	27194754	27194754	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:27194754G>A	uc003sys.2	-	2	599	c.467C>T	c.(466-468)ACG>ATG	p.T156M	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	156	Homeobox.				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				0						GCGGCGCCGCGTCAGGTAGCG	0.602												
HIBADH	11112	broad.mit.edu	37	7	27570865	27570865	+	Silent	SNP	G	G	A	rs145731776	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:27570865G>A	uc003szf.2	-	7	993	c.798C>T	c.(796-798)GGC>GGT	p.G266G	HIBADH_uc003szg.2_Silent_p.G217G|HIBADH_uc003szh.2_Silent_p.G165G	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	266					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CCGAGGGAACGCCATCCATCA	0.448												
NOD1	10392	broad.mit.edu	37	7	30491130	30491130	+	Missense_Mutation	SNP	G	G	T	rs146485628		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:30491130G>T	uc003tav.2	-	6	2426	c.1903C>A	c.(1903-1905)CTG>ATG	p.L635M		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	635	LRR 1.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						ACGCGGGGCAGGCTCTTCAGG	0.627												
KBTBD2	25948	broad.mit.edu	37	7	32909192	32909192	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:32909192C>T	uc003tdb.2	-	4	2296	c.1637G>A	c.(1636-1638)CGA>CAA	p.R546Q	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	546	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			GTATTTAGCTCGCTCATTTAA	0.468												
EEPD1	80820	broad.mit.edu	37	7	36336702	36336702	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:36336702G>A	uc003tfa.2	+	7	2056	c.1416G>A	c.(1414-1416)GCG>GCA	p.A472A		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	472					DNA repair		DNA binding				0						TGATCCCCGCGCACACCTTCA	0.473												
EEPD1	80820	broad.mit.edu	37	7	36338750	36338750	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:36338750G>A	uc003tfa.2	+	8	2285	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	549					DNA repair		DNA binding				0						CAAGAAGGATGCCCCTCGGAA	0.582												
GPR141	353345	broad.mit.edu	37	7	37780105	37780105	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:37780105C>A	uc003tfm.1	+	1	110	c.110C>A	c.(109-111)TCC>TAC	p.S37Y	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GGTGTCATTTCCATTCTTTTC	0.498												
STARD3NL	83930	broad.mit.edu	37	7	38254699	38254699	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:38254699C>T	uc003tfr.2	+	4	522	c.374C>T	c.(373-375)GCA>GTA	p.A125V	STARD3NL_uc003tfs.2_Missense_Mutation_p.A125V|STARD3NL_uc003tft.2_Missense_Mutation_p.A125V	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	125	MENTAL.|Helical; (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						CATTGGTGGGCAATAGCGGTG	0.478												
VPS41	27072	broad.mit.edu	37	7	38908811	38908811	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:38908811G>T	uc003tgy.2	-	3	129	c.103C>A	c.(103-105)CTT>ATT	p.L35I	VPS41_uc003tgz.2_Missense_Mutation_p.L35I|VPS41_uc010kxn.2_Missense_Mutation_p.L35I	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	35					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						CCATTGGAAAGCCTTTCATAC	0.418												
POU6F2	11281	broad.mit.edu	37	7	39503921	39503921	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:39503921C>T	uc003thb.1	+	10	1754	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	571	POU-specific.				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						CCTAAAAGTGCCCAGAAGATC	0.542												
C7orf25	79020	broad.mit.edu	37	7	42950258	42950258	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:42950258T>G	uc003thw.2	-	2	706	c.242A>C	c.(241-243)AAC>ACC	p.N81T	C7orf25_uc010kxq.2_Missense_Mutation_p.N81T|C7orf25_uc003thx.3_Missense_Mutation_p.N139T|C7orf25_uc010kxr.2_Missense_Mutation_p.N139T	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	81										skin(1)	1						TTCTTCCAGGTTTTCTGCTGA	0.403												
MRPL32	64983	broad.mit.edu	37	7	42972066	42972066	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:42972066G>A	uc003tia.2	+	1	128	c.81G>A	c.(79-81)CTG>CTA	p.L27L	C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32 precursor	27				SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3).	translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome				0						GGGAGCGACTGCTACGGAAGC	0.652												
HECW1	23072	broad.mit.edu	37	7	43351499	43351499	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:43351499C>T	uc003tid.1	+	4	770	c.165C>T	c.(163-165)GGC>GGT	p.G55G	HECW1_uc011kbi.1_Silent_p.G55G|HECW1_uc003tie.1_Silent_p.G87G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	55					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						ACCTCAGGGGCGGCCCCCACG	0.627												
AEBP1	165	broad.mit.edu	37	7	44150328	44150328	+	Missense_Mutation	SNP	G	G	A	rs150909656	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44150328G>A	uc003tkb.2	+	12	1710	c.1405G>A	c.(1405-1407)GAT>AAT	p.D469N	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	469	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCACAGTGACGATTTTGTGAC	0.572												
NPC1L1	29881	broad.mit.edu	37	7	44556414	44556414	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44556414C>T	uc003tlb.2	-	17	3544	c.3488G>A	c.(3487-3489)CGC>CAC	p.R1163H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R1136H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R1090H|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1163	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GAGGCCGGAGCGCAGGTCCAG	0.607												
CCM2	83605	broad.mit.edu	37	7	45113138	45113138	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:45113138G>A	uc003tmo.2	+	8	1029	c.883G>A	c.(883-885)GCC>ACC	p.A295T	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.A237T|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.A204T|CCM2_uc003tms.2_Missense_Mutation_p.A316T	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	295					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGCGCCAGCGCCACTGAGCT	0.622									Familial_Cerebral_Cavernous_Angioma			
IGFBP3	3486	broad.mit.edu	37	7	45954540	45954540	+	Missense_Mutation	SNP	C	C	T	rs17847676		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:45954540C>T	uc003tns.2	-	4	887	c.755G>A	c.(754-756)CGC>CAC	p.R252H	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R258H|IGFBP3_uc003tnt.2_Missense_Mutation_p.R155H	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	252	Thyroglobulin type-1.		R -> C (in a colorectal cancer sample; somatic mutation).		negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.R252C(1)		large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	TTTGGAAGGGCGACACTGTGG	0.592												
TNS3	64759	broad.mit.edu	37	7	47344501	47344501	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:47344501C>T	uc003tnv.2	-	21	3118	c.2751G>A	c.(2749-2751)ACG>ACA	p.T917T	TNS3_uc003tnw.2_Silent_p.T917T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	917				T -> A (in Ref. 4; CAH18438).		focal adhesion	protein binding			ovary(4)	4						GAAAGGAGGGCGTCGAGGACG	0.572												
ABCA13	154664	broad.mit.edu	37	7	48280634	48280634	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:48280634C>T	uc003toq.2	+	10	1258	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	411					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGCAGATGGCCCAAAAGATA	0.438												
POM121L12	285877	broad.mit.edu	37	7	53104180	53104180	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:53104180G>A	uc003tpz.2	+	1	832	c.816G>A	c.(814-816)ACG>ACA	p.T272T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	272											0						AGGCGACAACGCCTTCCTGCG	0.637												
ZNF680	340252	broad.mit.edu	37	7	63982401	63982401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:63982401C>T	uc003tta.2	-	4	904	c.731G>A	c.(730-732)GGC>GAC	p.G244D	ZNF680_uc010kzr.2_Missense_Mutation_p.G171D	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	244	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				AAAGGCTTTGCCACATTCCTC	0.358												
AUTS2	26053	broad.mit.edu	37	7	70254795	70254795	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:70254795G>T	uc003tvw.3	+	19	3336	c.2593G>T	c.(2593-2595)GCC>TCC	p.A865S	AUTS2_uc003tvx.3_Missense_Mutation_p.A841S|AUTS2_uc011keg.1_Missense_Mutation_p.A317S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	865										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCGGTGAATGCCCTGGGACA	0.582												
WBSCR17	64409	broad.mit.edu	37	7	70597954	70597954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:70597954G>A	uc003tvy.2	+	1	166	c.166G>A	c.(166-168)GCC>ACC	p.A56T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	56	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGCGCACAGCGCCAGCCCCAT	0.706												
FZD9	8326	broad.mit.edu	37	7	72849230	72849230	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:72849230C>T	uc003tyb.2	+	1	1122	c.893C>T	c.(892-894)GCG>GTG	p.A298V		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	298	Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GACCAGGAGGCGGGCGCGCTC	0.642												
MLXIPL	51085	broad.mit.edu	37	7	73013902	73013902	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:73013902G>A	uc003tyn.1	-	8	1073	c.1025C>T	c.(1024-1026)CCG>CTG	p.P342L	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.P342L|MLXIPL_uc003tyl.1_Missense_Mutation_p.P342L|MLXIPL_uc003tym.1_Missense_Mutation_p.P342L|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.P249L|MLXIPL_uc003tyq.1_Missense_Mutation_p.P84L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	342					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGAGGAAGCCGGGGGCACCTC	0.652												
WBSCR22	114049	broad.mit.edu	37	7	73098116	73098116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:73098116C>T	uc003tyt.2	+	2	126	c.68C>T	c.(67-69)GCC>GTC	p.A23V	DNAJC30_uc003tys.1_5'Flank|WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.A23V|WBSCR22_uc003tyv.2_5'UTR|WBSCR22_uc003tyw.1_5'UTR	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	23						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAGACAGAAGCCCGGAAATAC	0.592												
HIP1	3092	broad.mit.edu	37	7	75192520	75192520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:75192520C>T	uc003uds.1	-	10	892	c.851G>A	c.(850-852)CGG>CAG	p.R284Q	HIP1_uc011kfz.1_Missense_Mutation_p.R161Q	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	284					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CTGAATGAGCCGCTTGAAGTA	0.597			T	PDGFRB	CMML							
SRRM3	222183	broad.mit.edu	37	7	75896681	75896681	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:75896681G>A	uc010ldi.2	+	11	1145	c.936G>A	c.(934-936)CAG>CAA	p.Q312Q	SRRM3_uc011kgi.1_Missense_Mutation_p.A6T	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						GGTCGCCCCAGCGGAACGGCG	0.751												
PHTF2	57157	broad.mit.edu	37	7	77569849	77569849	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:77569849T>C	uc003ugs.3	+	14	1871	c.1745T>C	c.(1744-1746)TTA>TCA	p.L582S	PHTF2_uc003ugq.3_Missense_Mutation_p.L544S|PHTF2_uc010ldv.2_Missense_Mutation_p.L544S|PHTF2_uc003ugt.3_Missense_Mutation_p.L548S|PHTF2_uc003ugu.3_Missense_Mutation_p.L544S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTTAGCGATTACTTTTTGCA	0.303												
MAGI2	9863	broad.mit.edu	37	7	78636429	78636429	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:78636429T>C	uc003ugx.2	-	2	649	c.395A>G	c.(394-396)AAC>AGC	p.N132S	MAGI2_uc003ugy.2_Missense_Mutation_p.N132S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	132	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGTAGAGGTTGTCACGAAT	0.368												
SEMA3C	10512	broad.mit.edu	37	7	80374227	80374227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:80374227G>A	uc003uhj.2	-	18	2801	c.2239C>T	c.(2239-2241)CAG>TAG	p.Q747*	SEMA3C_uc011kgw.1_Nonsense_Mutation_p.Q765*	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	747					immune response|response to drug	membrane	receptor activity			ovary(1)	1						TCTGGCAACTGATTCCTCCTG	0.398												
SEMA3C	10512	broad.mit.edu	37	7	80418778	80418778	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:80418778A>C	uc003uhj.2	-	12	1760	c.1198T>G	c.(1198-1200)TTT>GTT	p.F400V	SEMA3C_uc011kgw.1_Missense_Mutation_p.F418V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	400	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						TTCCGAATAAAAGTGACAACA	0.398												
PCLO	27445	broad.mit.edu	37	7	82785132	82785132	+	Missense_Mutation	SNP	T	T	G	rs61742779	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:82785132T>G	uc003uhx.2	-	2	1114	c.825A>C	c.(823-825)CAA>CAC	p.Q275H	PCLO_uc003uhv.2_Missense_Mutation_p.Q275H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	275	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATGCATCTCGTTGAAGTGGCA	0.468												
SEMA3A	10371	broad.mit.edu	37	7	83590976	83590976	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:83590976A>C	uc003uhz.2	-	17	2342	c.2027T>G	c.(2026-2028)CTT>CGT	p.L676R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	676					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTTATGAAGAAGTTCTTCCAA	0.443												
SEMA3D	223117	broad.mit.edu	37	7	84642152	84642152	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:84642152G>A	uc003uic.2	-	15	1754	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C	SEMA3D_uc010led.2_Missense_Mutation_p.R572C|SEMA3D_uc003uib.2_Missense_Mutation_p.R211C	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	572	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						ACATCTTGGCGTCTAGCTCTC	0.403												
CROT	54677	broad.mit.edu	37	7	87021891	87021891	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87021891C>T	uc003uit.2	+	15	1680	c.1435C>T	c.(1435-1437)CGG>TGG	p.R479W	CROT_uc003uiu.2_Missense_Mutation_p.R507W	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	479					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCTTCGTGAGCGGCAGCAAAA	0.338												
ZNF804B	219578	broad.mit.edu	37	7	88963494	88963494	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88963494C>T	uc011khi.1	+	4	1736	c.1198C>T	c.(1198-1200)CAT>TAT	p.H400Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	400						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)			GAGTACAGTGCATCTGAATCC	0.373										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88964271	88964271	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88964271A>G	uc011khi.1	+	4	2513	c.1975A>G	c.(1975-1977)AGT>GGT	p.S659G		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	659						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)			CTGCAAGTCCAGTCCTTGTAC	0.418										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88965847	88965847	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88965847C>A	uc011khi.1	+	4	4089	c.3551C>A	c.(3550-3552)GCA>GAA	p.A1184E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1184						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)			TTGCCTGCTGCAGGGCCTACT	0.488										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88966259	88966259	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88966259A>C	uc011khi.1	+	4	4501	c.3963A>C	c.(3961-3963)CAA>CAC	p.Q1321H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1321						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)			TCCAAGGTCAAGATTTTTGCC	0.388										HNSCC(36;0.09)		
STEAP2	261729	broad.mit.edu	37	7	89861856	89861856	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:89861856G>A	uc003ujz.2	+	5	1784	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	STEAP2_uc010len.2_Missense_Mutation_p.G464D|STEAP2_uc003uka.2_Intron|STEAP2_uc003ukb.2_Missense_Mutation_p.G464D|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Intron	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	464					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					ATTAAAAAAGGCTGGGAAAAG	0.398												
AKAP9	10142	broad.mit.edu	37	7	91691589	91691589	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:91691589C>T	uc003ulg.2	+	24	5991	c.5766C>T	c.(5764-5766)GGC>GGT	p.G1922G	AKAP9_uc003ulf.2_Silent_p.G1922G|AKAP9_uc003uli.2_Silent_p.G1545G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1934	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid							
PEX1	5189	broad.mit.edu	37	7	92122435	92122435	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92122435A>G	uc003uly.2	-	20	3135	c.3039T>C	c.(3037-3039)CGT>CGC	p.R1013R	PEX1_uc011khr.1_Silent_p.R805R|PEX1_uc010ley.2_Silent_p.R956R|PEX1_uc011khs.1_Silent_p.R691R	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1013					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAATTTCAAGACGTGACACCT	0.299												
PEX1	5189	broad.mit.edu	37	7	92134057	92134057	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92134057C>T	uc003uly.2	-	12	2156	c.2060G>A	c.(2059-2061)CGG>CAG	p.R687Q	PEX1_uc011khr.1_Missense_Mutation_p.R479Q|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Missense_Mutation_p.R365Q|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	687			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAGCAAGCCGCTGGCTCTG	0.483												
PEX1	5189	broad.mit.edu	37	7	92147474	92147474	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92147474C>T	uc003uly.2	-	4	549	c.453G>A	c.(451-453)ACG>ACA	p.T151T	PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Silent_p.T151T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	151					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATATGTACGTTTGTTGAT	0.353												
SAMD9L	219285	broad.mit.edu	37	7	92761948	92761948	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92761948C>A	uc003umh.1	-	5	4553	c.3337G>T	c.(3337-3339)GCA>TCA	p.A1113S	SAMD9L_uc003umj.1_Missense_Mutation_p.A1113S|SAMD9L_uc003umi.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1113S|SAMD9L_uc003umk.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1113S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1113										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTAGGTGCTTTCATTTTG	0.383												
ASB4	51666	broad.mit.edu	37	7	95157167	95157167	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:95157167C>T	uc011kij.1	+	3	530	c.530C>T	c.(529-531)ACG>ATG	p.T177M	ASB4_uc003unx.2_Missense_Mutation_p.T177M	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	177	ANK 4.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GATGAGGAGACGCCCTTGCAC	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LMTK2	22853	broad.mit.edu	37	7	97800932	97800932	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:97800932C>T	uc003upd.1	+	7	1030	c.737C>T	c.(736-738)GCG>GTG	p.A246V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	246	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGAGGATGGCGTGCGAGGTC	0.672												
TECPR1	25851	broad.mit.edu	37	7	97852434	97852434	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:97852434G>T	uc003upg.2	-	21	3001	c.2796C>A	c.(2794-2796)ATC>ATA	p.I932I		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	932						integral to membrane	protein binding			pancreas(1)	1						CCCTGAGGGCGATGGGGGGCA	0.667												
TRRAP	8295	broad.mit.edu	37	7	98559056	98559056	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:98559056G>T	uc003upp.2	+	45	6850	c.6641G>T	c.(6640-6642)AGC>ATC	p.S2214I	TRRAP_uc011kis.1_Missense_Mutation_p.S2196I|TRRAP_uc003upr.2_Missense_Mutation_p.S1913I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2214	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCGTCCACAGCCTTCTCTCG	0.567												
TRRAP	8295	broad.mit.edu	37	7	98559094	98559094	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:98559094C>T	uc003upp.2	+	45	6888	c.6679C>T	c.(6679-6681)CCG>TCG	p.P2227S	TRRAP_uc011kis.1_Missense_Mutation_p.P2209S|TRRAP_uc003upr.2_Missense_Mutation_p.P1926S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2227	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAACAGAGCCGAGTATGTG	0.562												
OR2AE1	81392	broad.mit.edu	37	7	99473841	99473841	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:99473841A>G	uc003usc.1	-	1	816	c.816T>C	c.(814-816)GTT>GTC	p.V272V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACACAGAACCAACTTTGTTCT	0.473												
ZAN	7455	broad.mit.edu	37	7	100350317	100350317	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100350317A>C	uc003uwj.2	+	14	2754	c.2589A>C	c.(2587-2589)AAA>AAC	p.K863N	ZAN_uc003uwk.2_Missense_Mutation_p.K863N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	863	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.498												
EPHB4	2050	broad.mit.edu	37	7	100401094	100401094	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100401094G>T	uc003uwn.1	-	17	3444	c.2953C>A	c.(2953-2955)CCG>ACG	p.P985T	EPHB4_uc003uwm.1_Missense_Mutation_p.P892T|EPHB4_uc010lhj.1_Missense_Mutation_p.P933T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	985	Cytoplasmic (Potential).|PDZ-binding (Potential).				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662												
TRIP6	7205	broad.mit.edu	37	7	100470351	100470351	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100470351C>T	uc003uww.2	+	8	1454	c.1284C>T	c.(1282-1284)GGC>GGT	p.G428G	SRRT_uc010lhl.1_5'Flank|SRRT_uc003uwy.2_5'Flank|SRRT_uc003uxa.2_5'Flank|SRRT_uc003uwz.2_5'Flank	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	428	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCACATTGGCTGTTACAAGT	0.577												
ACHE	43	broad.mit.edu	37	7	100488956	100488956	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100488956A>G	uc003uxd.2	-	3	1713	c.1557T>C	c.(1555-1557)GAT>GAC	p.D519D	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.D519D|ACHE_uc003uxf.2_Silent_p.D519D|ACHE_uc003uxg.2_Silent_p.D519D|ACHE_uc003uxh.2_Silent_p.D431D|ACHE_uc003uxi.2_Silent_p.D519D	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	519					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCTCATTGGGATCCCTGCGGA	0.682												
C7orf52	375607	broad.mit.edu	37	7	100815807	100815807	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100815807G>A	uc003uxy.1	-	4	902	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C7orf52_uc003uxz.1_Silent_p.G221G	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	221							N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCCACGTCGCCGCCTGCCT	0.736												
SLC26A3	1811	broad.mit.edu	37	7	107423730	107423730	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:107423730C>T	uc003ver.2	-	9	1250	c.1039G>A	c.(1039-1041)GCA>ACA	p.A347T	SLC26A3_uc003ves.2_Missense_Mutation_p.A312T	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	347	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						GCAACCATTGCGATGCCGAAG	0.428												
LAMB4	22798	broad.mit.edu	37	7	107696398	107696398	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:107696398C>A	uc010ljo.1	-	25	3518	c.3434G>T	c.(3433-3435)GGC>GTC	p.G1145V	LAMB4_uc003vey.2_Missense_Mutation_p.G1145V|LAMB4_uc010ljp.1_Missense_Mutation_p.G114V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1145	Laminin EGF-like 13.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCGGCACATGCCTGTGTCTGG	0.542												
CAV2	858	broad.mit.edu	37	7	116139935	116139935	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:116139935G>A	uc003vid.2	+	1	492	c.100G>A	c.(100-102)GCG>ACG	p.A34T	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.A34T	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	34	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CGAGAAGTTCGCGGACTCGGA	0.682												
CTTNBP2	83992	broad.mit.edu	37	7	117432385	117432385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:117432385G>A	uc003vjf.2	-	4	957	c.865C>T	c.(865-867)CGT>TGT	p.R289C		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	289										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAAACCAAACGCCTATCTTTT	0.443												
KCND2	3751	broad.mit.edu	37	7	119915384	119915384	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:119915384A>G	uc003vjj.1	+	1	1663	c.698A>G	c.(697-699)GAC>GGC	p.D233G		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	233	Helical; Name=Segment S2; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTCTGCTTGGACACGGCCTGC	0.532												
LRRC4	64101	broad.mit.edu	37	7	127669503	127669503	+	Silent	SNP	G	G	T	rs141815231		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:127669503G>T	uc003vmk.2	-	2	1328	c.1191C>A	c.(1189-1191)CGC>CGA	p.R397R	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	397	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TCCTTGGGTGGCGGGAGGCGT	0.562												
LRRC4	64101	broad.mit.edu	37	7	127669511	127669511	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:127669511C>T	uc003vmk.2	-	2	1320	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	395	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TGGCGGGAGGCGTGGCTGAGC	0.562												
IRF5	3663	broad.mit.edu	37	7	128587086	128587086	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:128587086A>T	uc003vog.2	+	5	578	c.457A>T	c.(457-459)ATG>TTG	p.M153L	IRF5_uc010llr.1_Intron|IRF5_uc011kou.1_Missense_Mutation_p.M153L|IRF5_uc010lls.1_Intron|IRF5_uc003voh.2_Missense_Mutation_p.M153L|IRF5_uc010llt.2_Missense_Mutation_p.M153L|IRF5_uc003voi.2_Missense_Mutation_p.M153L|IRF5_uc010llu.1_Intron|IRF5_uc003vok.2_Silent_p.G143G|IRF5_uc003voj.3_Missense_Mutation_p.M153L|IRF5_uc010llv.1_Intron|IRF5_uc010llw.1_Intron	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	153					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGCAGAGGATGTTGCCAAG	0.572												
EXOC4	60412	broad.mit.edu	37	7	133749275	133749275	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:133749275C>T	uc003vrk.2	+	18	2954	c.2919C>T	c.(2917-2919)ACC>ACT	p.T973T	EXOC4_uc011kpo.1_Silent_p.T872T|EXOC4_uc003vrl.2_Silent_p.T583T|EXOC4_uc011kpp.1_Silent_p.T505T|EXOC4_uc011kpq.1_Silent_p.T261T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	973					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AGATAACTACCGTTTAGCAGG	0.507												
FAM180A	389558	broad.mit.edu	37	7	135418799	135418799	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:135418799G>A	uc003vtd.2	-	3	712	c.446C>T	c.(445-447)GCG>GTG	p.A149V	FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.A149V	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	149						extracellular region				ovary(2)	2						GAGGGACTGCGCCCAGATGTC	0.607												
CHRM2	1129	broad.mit.edu	37	7	136700065	136700065	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:136700065T>G	uc003vtf.1	+	4	1076	c.453T>G	c.(451-453)TCT>TCG	p.S151S	CHRM2_uc003vtg.1_Silent_p.S151S|CHRM2_uc003vtj.1_Silent_p.S151S|CHRM2_uc003vtk.1_Silent_p.S151S|CHRM2_uc003vtl.1_Silent_p.S151S|CHRM2_uc003vtm.1_Silent_p.S151S|CHRM2_uc003vti.1_Silent_p.S151S|CHRM2_uc003vto.1_Silent_p.S151S|CHRM2_uc003vtn.1_Silent_p.S151S|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	151	Helical; Name=4; (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)	GGGTCCTCTCTTTCATCCTCT	0.498												
MKRN1	23608	broad.mit.edu	37	7	140159029	140159029	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:140159029C>T	uc003vvt.2	-	4	774	c.549G>A	c.(547-549)GCG>GCA	p.A183A	MKRN1_uc003vvs.2_Silent_p.A119A|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.A183A|MKRN1_uc003vvu.3_Silent_p.A119A	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	183							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					TGCAGGAAGGCGCAGCTGAAA	0.463												
EPHA1	2041	broad.mit.edu	37	7	143096040	143096040	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:143096040T>C	uc003wcz.2	-	6	1079	c.992_splice	c.e6-1	p.G331_splice		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor							integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGGGGGACCTGTGGGAGAAG	0.637												
EPHA1	2041	broad.mit.edu	37	7	143096757	143096757	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:143096757G>A	uc003wcz.2	-	4	909	c.822C>T	c.(820-822)GGC>GGT	p.G274G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	274	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACATGCTTCGCCACTGCCAC	0.627												
CNTNAP2	26047	broad.mit.edu	37	7	146997365	146997365	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:146997365A>G	uc003weu.1	+	9	1997	c.1481A>G	c.(1480-1482)GAG>GGG	p.E494G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	494	Extracellular (Potential).|Laminin G-like 2.				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)			AAAACTGGCGAGAAGTACTTT	0.363										HNSCC(39;0.1)		
TMUB1	83590	broad.mit.edu	37	7	150779570	150779570	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:150779570G>T	uc003wjb.2	-	1	196	c.81C>A	c.(79-81)GCC>GCA	p.A27A	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Silent_p.A27A|TMUB1_uc003wjd.2_Silent_p.A27A	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain	27	Nuclear export signal (Potential).					cytoplasm|integral to membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGAGACCCAGGCAAGGGCCA	0.672												
ZNF596	169270	broad.mit.edu	37	8	195870	195870	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:195870A>G	uc003wot.2	+	6	1311	c.1023A>G	c.(1021-1023)GGA>GGG	p.G341G	ZNF596_uc003wou.2_Silent_p.G240G|ZNF596_uc003wov.2_Silent_p.G341G|ZNF596_uc003wow.2_Silent_p.G341G	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	341	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATCTATGTGGAAAAGCCTTCT	0.403												
CSMD1	64478	broad.mit.edu	37	8	3224684	3224684	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:3224684G>A	uc011kwk.1	-	20	3378	c.2988C>T	c.(2986-2988)CCC>CCT	p.P996P	CSMD1_uc011kwj.1_Silent_p.P388P|CSMD1_uc003wqe.2_Silent_p.P152P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	996	Extracellular (Potential).|CUB 6.					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)		GCCTGGCAACGGGCTCGGAAA	0.473												
PSD3	23362	broad.mit.edu	37	8	18490163	18490163	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:18490163G>T	uc003wza.2	-	11	2473	c.2370C>A	c.(2368-2370)TTC>TTA	p.F790L	PSD3_uc003wyx.3_Missense_Mutation_p.F119L|PSD3_uc003wyy.2_Missense_Mutation_p.F256L|PSD3_uc003wyz.2_Missense_Mutation_p.F91L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	791	PH.				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)		TCCGAGCCAAGAATCCACTTT	0.358												
FAM160B2	64760	broad.mit.edu	37	8	21960331	21960331	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:21960331C>T	uc011kyx.1	+	17	2172	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	707											0						TCCTCCAGGGCGTGGTGGTGC	0.647												
POLR3D	661	broad.mit.edu	37	8	22107661	22107661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:22107661G>A	uc003xbl.2	+	8	1078	c.995G>A	c.(994-996)CGC>CAC	p.R332H	POLR3D_uc003xbm.2_Missense_Mutation_p.R332H|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	332					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTACTCATCCGCAAGTCTGGA	0.562												
PBK	55872	broad.mit.edu	37	8	27668479	27668479	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:27668479A>T	uc003xgi.2	-	7	969	c.768T>A	c.(766-768)GAT>GAA	p.D256E	ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D267E	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	256	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TCATACCTTCATCATCATCAT	0.299												
KIF13B	23303	broad.mit.edu	37	8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:28989840C>T	uc003xhh.3	-	23	2986	c.2927G>A	c.(2926-2928)CGT>CAT	p.R976H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.323												
KIF13B	23303	broad.mit.edu	37	8	28991587	28991587	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:28991587C>T	uc003xhh.3	-	22	2813	c.2754G>A	c.(2752-2754)CCG>CCA	p.P918P	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	918					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATGCAGTGCGGCTCCTTGC	0.458												
ADAM2	2515	broad.mit.edu	37	8	39644512	39644512	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:39644512T>C	uc003xnj.2	-	10	947	c.872A>G	c.(871-873)TAT>TGT	p.Y291C	ADAM2_uc003xnk.2_Missense_Mutation_p.Y272C|ADAM2_uc011lck.1_Missense_Mutation_p.Y291C|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	291	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACCTCCTGCATAGTTTGCATC	0.294												
MYST3	7994	broad.mit.edu	37	8	41791415	41791415	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:41791415G>A	uc010lxb.2	-	18	4867	c.4323C>T	c.(4321-4323)GGC>GGT	p.G1441G	MYST3_uc010lxc.2_Silent_p.G1441G|MYST3_uc003xon.3_Silent_p.G1441G	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1441					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CCTGGTAGGCGCCCTCATGCT	0.512												
PRKDC	5591	broad.mit.edu	37	8	48777241	48777241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:48777241C>T	uc003xqi.2	-	42	5504	c.5447G>A	c.(5446-5448)CGC>CAC	p.R1816H	PRKDC_uc003xqj.2_Missense_Mutation_p.R1816H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1816					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGGACTGGCGTGTGAAACT	0.488								NHEJ				
MOS	4342	broad.mit.edu	37	8	57026083	57026083	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:57026083G>A	uc011leb.1	-	1	459	c.459C>T	c.(457-459)GGC>GGT	p.G153G		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	153	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGCCGGCGGCGCCATAGATGA	0.587												
CA8	767	broad.mit.edu	37	8	61192348	61192348	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:61192348C>T	uc003xtz.1	-	2	440	c.192G>A	c.(190-192)TCG>TCA	p.S64S	CA8_uc003xua.1_Silent_p.S64S|CA8_uc003xub.2_Silent_p.S64S	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	64					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CATCCAACAGCGAGGGGTCAT	0.473												
CHD7	55636	broad.mit.edu	37	8	61778057	61778057	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:61778057G>A	uc003xue.2	+	38	9036	c.8559G>A	c.(8557-8559)GAG>GAA	p.E2853E		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2853					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)			ATGAAGACGAGAACAAAGACT	0.498												
YTHDF3	253943	broad.mit.edu	37	8	64099642	64099642	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:64099642G>A	uc003xuy.2	+	5	1389	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	YTHDF3_uc010lys.2_Missense_Mutation_p.R302H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R302H|YTHDF3_uc003xva.2_Missense_Mutation_p.R302H|YTHDF3_uc011len.1_Missense_Mutation_p.R302H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	358											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAGCTCCTCGTAACAGGGGA	0.547												
YTHDF3	253943	broad.mit.edu	37	8	64099819	64099819	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:64099819G>A	uc003xuy.2	+	5	1566	c.1250G>A	c.(1249-1251)CGT>CAT	p.R417H	YTHDF3_uc010lys.2_Missense_Mutation_p.R361H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R361H|YTHDF3_uc003xva.2_Missense_Mutation_p.R361H|YTHDF3_uc011len.1_Missense_Mutation_p.R361H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	417	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGAATGGACGTGTGTTTATA	0.393												
MTFR1	9650	broad.mit.edu	37	8	66619297	66619297	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:66619297C>A	uc003xvm.2	+	6	782	c.570C>A	c.(568-570)CCC>CCA	p.P190P	MTFR1_uc011lep.1_Silent_p.P190P|MTFR1_uc003xvn.2_Silent_p.P157P|MTFR1_uc003xvo.1_Silent_p.P180P	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	190	Pro-rich.					mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CTCCACCTCCCCCACCGCCCC	0.478												
TRIM55	84675	broad.mit.edu	37	8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67040642G>A	uc003xvv.2	+	2	498	c.272G>A	c.(271-273)GGG>GAG	p.G91E	TRIM55_uc003xvu.2_Missense_Mutation_p.G91E|TRIM55_uc003xvw.2_Missense_Mutation_p.G91E|TRIM55_uc003xvx.2_Missense_Mutation_p.G91E	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	91						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAGACATGGGGTATATGGA	0.498												
VCPIP1	80124	broad.mit.edu	37	8	67546767	67546767	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67546767G>T	uc003xwn.2	-	3	3897	c.3638C>A	c.(3637-3639)ACT>AAT	p.T1213N		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1213					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGTTGTGTTAGTCATCTCAGC	0.433												
C8orf45	157777	broad.mit.edu	37	8	67809147	67809147	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67809147C>T	uc003xwz.3	+	12	1750	c.1579C>T	c.(1579-1581)CTG>TTG	p.L527L	C8orf45_uc011lev.1_Silent_p.L527L|C8orf45_uc011lew.1_Silent_p.L458L|C8orf45_uc011lex.1_Silent_p.L285L|C8orf45_uc003xwy.3_Silent_p.L527L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	527					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCTGAAGGGCTGTTTTATGC	0.413												
CSPP1	79848	broad.mit.edu	37	8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68028332G>A	uc003xxi.2	+	13	1592	c.1561G>A	c.(1561-1563)GCC>ACC	p.A521T	CSPP1_uc003xxg.1_Missense_Mutation_p.A513T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A486T|CSPP1_uc003xxk.2_Missense_Mutation_p.A192T	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443												
PREX2	80243	broad.mit.edu	37	8	68965434	68965434	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68965434A>T	uc003xxv.1	+	9	1073	c.1046A>T	c.(1045-1047)AAG>ATG	p.K349M	PREX2_uc003xxu.1_Missense_Mutation_p.K349M|PREX2_uc011lez.1_Missense_Mutation_p.K284M	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	349	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CCTGAAGAGAAGCATGAATGG	0.383												
SULF1	23213	broad.mit.edu	37	8	70533326	70533326	+	Silent	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:70533326A>C	uc010lza.1	+	14	2151	c.1434A>C	c.(1432-1434)GGA>GGC	p.G478G	SULF1_uc003xyd.2_Silent_p.G478G|SULF1_uc003xye.2_Silent_p.G478G|SULF1_uc003xyf.2_Silent_p.G478G|SULF1_uc003xyg.2_Silent_p.G478G|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	478					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGTGTAAAGGACCCAGTGACC	0.517												
JPH1	56704	broad.mit.edu	37	8	75227608	75227608	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:75227608G>A	uc003yae.2	-	2	667	c.627C>T	c.(625-627)GGC>GGT	p.G209G	JPH1_uc003yaf.2_Silent_p.G209G|JPH1_uc003yag.1_Silent_p.G73G	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	209	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGAGGCCGCCCTTCTTCT	0.652												
JPH1	56704	broad.mit.edu	37	8	75227780	75227780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:75227780G>A	uc003yae.2	-	2	495	c.455C>T	c.(454-456)GCC>GTC	p.A152V	JPH1_uc003yaf.2_Missense_Mutation_p.A152V|JPH1_uc003yag.1_Missense_Mutation_p.A16V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	152	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GATCACCGTGGCCATGCCGTA	0.697												
CHMP4C	92421	broad.mit.edu	37	8	82644967	82644967	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:82644967C>T	uc003ycl.2	+	1	280	c.106C>T	c.(106-108)CTG>TTG	p.L36L		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	36	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						TGAGGAGATGCTGGGCAAGAA	0.577												
MMP16	4325	broad.mit.edu	37	8	89053979	89053979	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:89053979T>G	uc003yeb.3	-	10	1816	c.1534A>C	c.(1534-1536)AAC>CAC	p.N512H		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	512	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AGTATCTGGTTGTTGAATTTC	0.418												
OSGIN2	734	broad.mit.edu	37	8	90937611	90937611	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:90937611G>T	uc003yeg.2	+	6	1715	c.1369G>T	c.(1369-1371)GCC>TCC	p.A457S	OSGIN2_uc003yeh.2_Missense_Mutation_p.A501S	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	457					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATTAAAGAAGCCAACCTTTT	0.428												
RUNX1T1	862	broad.mit.edu	37	8	93004021	93004021	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:93004021A>G	uc003yfd.2	-	6	921	c.837T>C	c.(835-837)AAT>AAC	p.N279N	RUNX1T1_uc003yfc.1_Silent_p.N252N|RUNX1T1_uc003yfe.1_Silent_p.N242N|RUNX1T1_uc010mao.2_Silent_p.N252N|RUNX1T1_uc011lgi.1_Silent_p.N290N|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.N242N	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	279					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATAAGCCGTTATTTGGACTGT	0.522												
RBM12B	389677	broad.mit.edu	37	8	94745991	94745991	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:94745991C>T	uc003yfz.2	-	3	2841	c.2648G>A	c.(2647-2649)CGC>CAC	p.R883H		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	883							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CACAAAAGGGCGGTGACTTCT	0.468												
GDF6	392255	broad.mit.edu	37	8	97157302	97157302	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:97157302C>T	uc003yhp.2	-	2	957	c.857G>A	c.(856-858)CGC>CAC	p.R286H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	286					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CAGGTTCTTGCGCTGGGATCT	0.527												
MATN2	4147	broad.mit.edu	37	8	99015935	99015935	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:99015935C>T	uc003yic.2	+	8	1482	c.1251C>T	c.(1249-1251)TGC>TGT	p.C417C	MATN2_uc003yib.1_Silent_p.C417C|MATN2_uc010mbh.1_Silent_p.C376C|MATN2_uc003yid.2_Silent_p.C417C|MATN2_uc003yie.1_Silent_p.C417C|MATN2_uc010mbi.1_Silent_p.C250C	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	417	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGCATGAGTGCGTCAACATGG	0.587												
KCNS2	3788	broad.mit.edu	37	8	99440303	99440303	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:99440303G>A	uc003yin.2	+	2	446	c.96G>A	c.(94-96)TCG>TCA	p.S32S		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	32	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCTGCGCTCGCACACGCTGC	0.667												
RGS22	26166	broad.mit.edu	37	8	101011503	101011503	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:101011503C>T	uc003yjb.1	-	19	3131	c.2936G>A	c.(2935-2937)CGT>CAT	p.R979H	RGS22_uc003yja.1_Missense_Mutation_p.R798H|RGS22_uc003yjc.1_Missense_Mutation_p.R967H	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	979	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATCTTCTGACGTGCTGCAAA	0.239												
UBR5	51366	broad.mit.edu	37	8	103274146	103274146	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103274146T>C	uc003ykr.1	-	55	7872	c.7839A>G	c.(7837-7839)GGA>GGG	p.G2613G	UBR5_uc003yks.1_Silent_p.G2612G|UBR5_uc003ykq.2_Silent_p.G124G	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2613	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTTACCTGTCCTCCACCTT	0.403												
UBR5	51366	broad.mit.edu	37	8	103282387	103282387	+	Silent	SNP	G	G	A	rs140195197		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103282387G>A	uc003ykr.1	-	50	7143	c.7110C>T	c.(7108-7110)ATC>ATT	p.I2370I	UBR5_uc003yks.1_Silent_p.I2370I|UBR5_uc003ykq.2_5'Flank	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2370					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCTAGTGTCGATGGAAAGCT	0.428												
UBR5	51366	broad.mit.edu	37	8	103310701	103310701	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103310701T>G	uc003ykr.1	-	26	3376	c.3343A>C	c.(3343-3345)ACC>CCC	p.T1115P	UBR5_uc003yks.1_Missense_Mutation_p.T1115P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1115					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATAAATGGGGTCATCCCTCTT	0.303												
DCAF13	25879	broad.mit.edu	37	8	104447873	104447873	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104447873C>T	uc003yln.2	+	8	1538	c.1261C>T	c.(1261-1263)CGT>TGT	p.R421C	DCAF13_uc003ylm.1_Missense_Mutation_p.R154C|DCAF13_uc003ylo.2_Missense_Mutation_p.R132C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	269	WD 5.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						TTTTGATATGCGTGCACTGGA	0.368												
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113988259	113988259	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:113988259T>C	uc003ynu.2	-	7	1308	c.1149A>G	c.(1147-1149)ACA>ACG	p.T383T	CSMD3_uc003ynt.2_Silent_p.T343T|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	383	Extracellular (Potential).					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						TGGTGACAGCTGTAACACTGG	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116631441	116631441	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:116631441A>G	uc003ynz.2	-	2	1304	c.845T>C	c.(844-846)GTC>GCC	p.V282A	TRPS1_uc011lhy.1_Missense_Mutation_p.V286A|TRPS1_uc003yny.2_Missense_Mutation_p.V295A|TRPS1_uc010mcy.2_Missense_Mutation_p.V282A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	282					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)			AGAACGGTTGACCTTCTGGAA	0.463									Langer-Giedion_syndrome			
SLC30A8	169026	broad.mit.edu	37	8	118169969	118169969	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:118169969T>C	uc003yoh.2	+	4	688	c.458T>C	c.(457-459)GTG>GCG	p.V153A	SLC30A8_uc010mcz.2_Missense_Mutation_p.V104A|SLC30A8_uc011lia.1_Missense_Mutation_p.V104A|SLC30A8_uc003yog.2_Missense_Mutation_p.V104A	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	153	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCATCTGGGTGGTGACTGGC	0.527												
TNFRSF11B	4982	broad.mit.edu	37	8	119936808	119936808	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:119936808G>A	uc003yon.3	-	5	1334	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G		NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	337	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TGTCTTGGTCGCCATTTTTTA	0.448												
ENPP2	5168	broad.mit.edu	37	8	120613700	120613700	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:120613700A>G	uc003yot.1	-	10	922	c.836T>C	c.(835-837)GTC>GCC	p.V279A	ENPP2_uc003yos.1_Missense_Mutation_p.V279A|ENPP2_uc010mdd.1_Missense_Mutation_p.V279A	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	279					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGAGGGATGACACTGGAGGG	0.458												
MRPL13	28998	broad.mit.edu	37	8	121426273	121426273	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:121426273A>G	uc003ypa.2	-	6	785	c.472T>C	c.(472-474)TAC>CAC	p.Y158H	MRPL13_uc010mdf.2_RNA	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	158					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)	1	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTTGTGTGTACTCATCTAGA	0.313												
FBXO32	114907	broad.mit.edu	37	8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:124526525C>T	uc003yqr.2	-	5	613	c.421G>A	c.(421-423)GCC>ACC	p.A141T	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	141										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448												
ASAP1	50807	broad.mit.edu	37	8	131226856	131226856	+	Silent	SNP	C	C	T	rs141635397		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:131226856C>T	uc003yta.1	-	4	379	c.351G>A	c.(349-351)GCG>GCA	p.A117A	ASAP1_uc011liw.1_Silent_p.A110A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	117					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						ACTTGACAAACGCGGTGCCAA	0.363												
TG	7038	broad.mit.edu	37	8	133898733	133898733	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:133898733G>A	uc003ytw.2	+	9	1157	c.1116G>A	c.(1114-1116)TTG>TTA	p.L372L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	372					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGGCCTTGTCCAGACTCT	0.502												
TG	7038	broad.mit.edu	37	8	133899503	133899503	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:133899503T>C	uc003ytw.2	+	9	1927	c.1886T>C	c.(1885-1887)GTC>GCC	p.V629A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	629	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGAGGATGTCCAATGCTTT	0.532												
DENND3	22898	broad.mit.edu	37	8	142185496	142185496	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142185496C>A	uc003yvy.2	+	14	2511	c.2233C>A	c.(2233-2235)CTG>ATG	p.L745M	DENND3_uc010mep.2_Missense_Mutation_p.L706M|DENND3_uc003yvz.1_Missense_Mutation_p.L429M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	745										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105)			CCAGAAGCGCCTGTTCCTCCT	0.532											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FLJ43860	389690	broad.mit.edu	37	8	142487536	142487536	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142487536C>T	uc003ywi.2	-	12	1493	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	471							binding	p.R471H(1)			0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCCTGCTGGCGACTCCGCGT	0.652												
GPR172A	79581	broad.mit.edu	37	8	145584466	145584466	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:145584466C>A	uc003zcc.1	+	5	1286	c.1129C>A	c.(1129-1131)CTG>ATG	p.L377M	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L377M|GPR172A_uc003zce.1_Missense_Mutation_p.L377M|GPR172A_uc010mfy.1_Missense_Mutation_p.L377M|GPR172A_uc003zcf.1_Missense_Mutation_p.L377M|GPR172A_uc011llc.1_Missense_Mutation_p.L289M	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	377	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCCTCAGGTGCTGTCGTGGGT	0.672												
RECQL4	9401	broad.mit.edu	37	8	145738385	145738385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:145738385G>A	uc003zdj.2	-	16	2632	c.2600C>T	c.(2599-2601)GCC>GTC	p.A867V		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	867					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	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)			CCCACCCACGGCCCCTTCCTG	0.667			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
VLDLR	7436	broad.mit.edu	37	9	2652951	2652951	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:2652951T>C	uc003zhk.1	+	18	2983	c.2586_splice	c.e18+2	p.A862_splice	VLDLR_uc003zhl.1_Splice_Site_p.A834_splice|VLDLR_uc003zhm.1_Splice_Site|VLDLR_uc003zhn.1_Splice_Site_p.A793_splice	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TACCCAGCAGTAAGTCAGCTT	0.453												
KDM4C	23081	broad.mit.edu	37	9	6805761	6805761	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:6805761G>T	uc003zkh.2	+	3	887	c.307G>T	c.(307-309)GCC>TCC	p.A103S	KDM4C_uc010mhu.2_Missense_Mutation_p.A125S|KDM4C_uc010mhw.2_Missense_Mutation_p.A103S|KDM4C_uc011lmi.1_Missense_Mutation_p.A103S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A103S|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.A103S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	103					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CAGGCAGCTGGCCAACAGTGG	0.418												
C9orf93	203238	broad.mit.edu	37	9	15623310	15623310	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:15623310T>A	uc003zmd.2	+	7	1036	c.721T>A	c.(721-723)TTA>ATA	p.L241I	C9orf93_uc010mih.1_Missense_Mutation_p.L241I|C9orf93_uc003zme.2_Missense_Mutation_p.L148I|C9orf93_uc011lmu.1_Missense_Mutation_p.L241I|C9orf93_uc003zmc.2_Missense_Mutation_p.L241I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	241	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGTAGAAAAATTAGAAACAGA	0.348												
ADAMTSL1	92949	broad.mit.edu	37	9	18504938	18504938	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:18504938C>T	uc003zne.3	+	2	302	c.175C>T	c.(175-177)CGC>TGC	p.R59C	ADAMTSL1_uc003znb.2_Missense_Mutation_p.R59C|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R59C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	59	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCTCTGAGGCGCTGCCTGAG	0.612												
ELAVL2	1993	broad.mit.edu	37	9	23762152	23762152	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:23762152T>G	uc003zpu.2	-	2	356	c.81A>C	c.(79-81)TCA>TCC	p.S27S	ELAVL2_uc003zps.2_Silent_p.S27S|ELAVL2_uc003zpt.2_Silent_p.S27S|ELAVL2_uc003zpv.2_Silent_p.S27S|ELAVL2_uc003zpw.2_Silent_p.S27S	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	27					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)		AGTCAACTGGTGACGAACAGT	0.443												
C9orf72	203228	broad.mit.edu	37	9	27566799	27566799	+	Missense_Mutation	SNP	C	C	T	rs145645318		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:27566799C>T	uc003zqq.2	-	2	417	c.320G>A	c.(319-321)CGC>CAC	p.R107H	C9orf72_uc003zqr.1_Missense_Mutation_p.R107H	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	107										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATATGTGCTGCGATCCCCATT	0.373												
LINGO2	158038	broad.mit.edu	37	9	27950147	27950147	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:27950147C>T	uc003zqu.1	-	2	717	c.523G>A	c.(523-525)GGG>AGG	p.G175R	LINGO2_uc010mjf.1_Missense_Mutation_p.G175R|LINGO2_uc003zqv.1_Missense_Mutation_p.G175R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	175	LRR 5.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTAAGAAGCCCACTGAATGCC	0.468												
DDX58	23586	broad.mit.edu	37	9	32488855	32488855	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:32488855A>C	uc003zra.2	-	7	988	c.830T>G	c.(829-831)ATA>AGA	p.I277R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.I232R|DDX58_uc011lnr.1_Missense_Mutation_p.I74R|DDX58_uc010mji.2_Missense_Mutation_p.I206R	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	277	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATGTTCACATATAAGCAGTGA	0.328												
TLE4	7091	broad.mit.edu	37	9	82323668	82323668	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:82323668C>T	uc004ald.2	+	14	2154	c.1305C>T	c.(1303-1305)GCC>GCT	p.A435A	TLE4_uc004alc.2_Silent_p.A410A|TLE4_uc010mpr.2_Silent_p.A289A|TLE4_uc004ale.2_Silent_p.A47A|TLE4_uc011lsq.1_Silent_p.A378A|TLE4_uc010mps.2_Silent_p.A334A|TLE4_uc004alf.2_Silent_p.A349A	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ctgccgccgccgctgctgctg	0.443												
NTRK2	4915	broad.mit.edu	37	9	87285857	87285857	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:87285857C>A	uc004aoa.1	+	4	1132	c.194C>A	c.(193-195)CCT>CAT	p.P65H	NTRK2_uc004anv.1_Missense_Mutation_p.P65H|NTRK2_uc004any.1_Missense_Mutation_p.P65H|NTRK2_uc004anz.1_Missense_Mutation_p.P65H|NTRK2_uc011lsz.1_Missense_Mutation_p.P65H|NTRK2_uc011lta.1_Missense_Mutation_p.P65H|NTRK2_uc004aob.1_Missense_Mutation_p.P65H|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	65	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						AGTGTAGATCCTGAGAACATC	0.552										TSP Lung(25;0.17)		
GAS1	2619	broad.mit.edu	37	9	89560864	89560864	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:89560864G>A	uc004aox.3	-	1	1241	c.831C>T	c.(829-831)GGC>GGT	p.G277G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	277					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CACCACCCGCGCCCCCGGTGC	0.761												
DAPK1	1612	broad.mit.edu	37	9	90322206	90322206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:90322206G>A	uc004apc.2	+	26	4358	c.4220G>A	c.(4219-4221)GGC>GAC	p.G1407D	DAPK1_uc004apd.2_Missense_Mutation_p.G1407D|DAPK1_uc011ltg.1_Missense_Mutation_p.G1341D|DAPK1_uc011lth.1_Missense_Mutation_p.G1144D|DAPK1_uc004apg.2_Missense_Mutation_p.G384D	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1407					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GATGGCAATGGCCAGGAGGCC	0.572									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
SEMA4D	10507	broad.mit.edu	37	9	92011708	92011708	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:92011708C>T	uc004aqo.1	-	8	930	c.358G>A	c.(358-360)GCC>ACC	p.A120T	SEMA4D_uc011ltm.1_Missense_Mutation_p.A120T|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.A118T	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	120	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						AGGGAAGTGGCGCTGAGTGGC	0.592												
SPTLC1	10558	broad.mit.edu	37	9	94800620	94800620	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:94800620C>A	uc004arl.1	-	13	1202	c.1164G>T	c.(1162-1164)GAG>GAT	p.E388D	SPTLC1_uc011ltv.1_Missense_Mutation_p.E388D	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	388	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAAAGGGACTCCCCCACCA	0.473												
ECM2	1842	broad.mit.edu	37	9	95277103	95277103	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:95277103G>A	uc004ash.2	-	4	929	c.864C>T	c.(862-864)GAC>GAT	p.D288D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.D266D|ECM2_uc011lty.1_Silent_p.D288D|ECM2_uc004asg.2_Silent_p.D266D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	288					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						GGtcctcctcgtcctcctcat	0.418												
FGD3	89846	broad.mit.edu	37	9	95768399	95768399	+	Silent	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:95768399A>G	uc004asw.2	+	6	1402	c.774A>G	c.(772-774)GTA>GTG	p.V258V	FGD3_uc004asx.2_Silent_p.V258V|FGD3_uc004asz.2_Silent_p.V258V|FGD3_uc004ata.2_Silent_p.V61V	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	258	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						ACCGAGCCGTAGGGCTGGTGA	0.582												
ZNF169	169841	broad.mit.edu	37	9	97062645	97062645	+	Missense_Mutation	SNP	C	C	T	rs10993152		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97062645C>T	uc004aum.1	+	5	910	c.805C>T	c.(805-807)CGT>TGT	p.R269C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	269	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TGAGTGTGGGCGTCGGTTTAG	0.572												
ZNF169	169841	broad.mit.edu	37	9	97063480	97063480	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97063480G>A	uc004aum.1	+	5	1745	c.1640G>A	c.(1639-1641)TGT>TAT	p.C547Y		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	547	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TGCGATGAATGTGGGCGCGGC	0.552												
FAM22F	54754	broad.mit.edu	37	9	97084510	97084510	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97084510C>T	uc004aup.1	-	3	836	c.815G>A	c.(814-816)CGG>CAG	p.R272Q		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	272											0		Acute lymphoblastic leukemia(62;0.136)				GAAGATCATCCGGTCAAAGTT	0.647												
C9orf102	375748	broad.mit.edu	37	9	98728971	98728971	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:98728971C>T	uc004avt.3	+	14	2496	c.2108C>T	c.(2107-2109)TCT>TTT	p.S703F	C9orf102_uc011lum.1_Missense_Mutation_p.S405F|C9orf102_uc010mry.1_Missense_Mutation_p.S405F|C9orf102_uc010mrz.2_Missense_Mutation_p.S514F|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	703					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TCCCAAGGGTCTTGTCTTACG	0.373												
SLC35D2	11046	broad.mit.edu	37	9	99107622	99107622	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:99107622C>T	uc004awc.2	-	7	626	c.550G>A	c.(550-552)GCA>ACA	p.A184T	SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.A137T|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	184	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				CCATTTGCTGCTGTGAAGATA	0.408												
KIAA1529	57653	broad.mit.edu	37	9	100080790	100080790	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100080790G>A	uc011lut.1	+	22	2327	c.1554G>A	c.(1552-1554)ACG>ACA	p.T518T	KIAA1529_uc004axe.1_Silent_p.T518T|KIAA1529_uc004axg.1_Silent_p.T379T|KIAA1529_uc011lus.1_Silent_p.T336T|KIAA1529_uc010msm.1_Intron|KIAA1529_uc004axf.2_Silent_p.T379T|KIAA1529_uc011luv.1_Silent_p.T376T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CGGCTGTGACGAAGGAGCTAG	0.592												
KIAA1529	57653	broad.mit.edu	37	9	100085148	100085148	+	Missense_Mutation	SNP	G	G	A	rs151161375	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100085148G>A	uc011lut.1	+	24	2515	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	KIAA1529_uc004axe.1_Missense_Mutation_p.R581H|KIAA1529_uc004axg.1_Missense_Mutation_p.R442H|KIAA1529_uc011lus.1_Missense_Mutation_p.R399H|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.R442H|KIAA1529_uc011luv.1_Missense_Mutation_p.R439H	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				ATGCGGATCCGCCTGCTGTAT	0.537												
KIAA1529	57653	broad.mit.edu	37	9	100128909	100128909	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100128909C>T	uc011lut.1	+	43	5438	c.4665C>T	c.(4663-4665)TGC>TGT	p.C1555C	KIAA1529_uc004axe.1_Silent_p.C1361C|KIAA1529_uc004axg.1_Silent_p.C1416C|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.C509C|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TTGACCAGTGCGCCGAGAACA	0.532												
KIAA1529	57653	broad.mit.edu	37	9	100137832	100137832	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100137832C>T	uc011lut.1	+	48	6125	c.5352C>T	c.(5350-5352)GGC>GGT	p.G1784G	KIAA1529_uc004axe.1_Silent_p.G1590G|KIAA1529_uc004axg.1_Silent_p.G1645G|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.G738G	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CCACCCTGGGCCACCTGGCGG	0.587												
COL15A1	1306	broad.mit.edu	37	9	101822204	101822204	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:101822204G>A	uc004azb.1	+	36	3577	c.3371G>A	c.(3370-3372)GGA>GAA	p.G1124E		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1124	Triple-helical region 9 (COL9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GGCCCTCCAGGACAGCCAGGG	0.463												
NR4A3	8013	broad.mit.edu	37	9	102591219	102591219	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:102591219G>A	uc004baf.1	+	3	1624	c.895G>A	c.(895-897)GCC>ACC	p.A299T	NR4A3_uc004bae.2_Missense_Mutation_p.A299T|NR4A3_uc004bag.1_Missense_Mutation_p.A299T|NR4A3_uc004bai.2_Missense_Mutation_p.A310T	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	299	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CGGGGACAACGCCGCCTGCCA	0.716			T	EWSR1	extraskeletal myxoid chondrosarcoma							
GRIN3A	116443	broad.mit.edu	37	9	104499750	104499750	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:104499750G>A	uc004bbp.1	-	1	1113	c.512C>T	c.(511-513)TCG>TTG	p.S171L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	171	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCCATGGCGAACTAGGGGA	0.607												
ABCA1	19	broad.mit.edu	37	9	107571802	107571802	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:107571802C>T	uc004bcl.2	-	30	4532	c.4219G>A	c.(4219-4221)GCC>ACC	p.A1407T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1407	Extracellular.		A -> T (in a colorectal cancer sample; somatic mutation).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.A1407T(1)		large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGAGGGCGTTTAAGAGT	0.517												
FKTN	2218	broad.mit.edu	37	9	108370183	108370183	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:108370183A>C	uc004bcr.2	+	7	947	c.731A>C	c.(730-732)CAC>CCC	p.H244P	FKTN_uc011lvx.1_Missense_Mutation_p.H244P|FKTN_uc004bcs.2_Missense_Mutation_p.H244P|FKTN_uc011lvy.1_Missense_Mutation_p.H244P|FKTN_uc010mtm.2_Missense_Mutation_p.H112P	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	244	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						GAAGTACCACACTCTAGGTTT	0.363												
ACTL7B	10880	broad.mit.edu	37	9	111617575	111617575	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:111617575G>A	uc004bdi.2	-	1	701	c.636C>T	c.(634-636)GGC>GGT	p.G212G		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCAGCACGTCGCCCTCGGATA	0.667												
EPB41L4B	54566	broad.mit.edu	37	9	112013771	112013771	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112013771C>T	uc004bdz.1	-	13	1595	c.1300G>A	c.(1300-1302)GCC>ACC	p.A434T	EPB41L4B_uc004bea.2_Missense_Mutation_p.A434T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	434						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAGCTGGGCTGCTATCACT	0.418												
PTPN3	5774	broad.mit.edu	37	9	112172545	112172545	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112172545G>A	uc004bed.2	-	15	1576	c.1464C>T	c.(1462-1464)GGC>GGT	p.G488G	PTPN3_uc004beb.2_Silent_p.G357G|PTPN3_uc004bec.2_Silent_p.G312G|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.G443G|PTPN3_uc011lwh.1_Silent_p.G334G|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Silent_p.G201G|PTPN3_uc011lwf.1_Silent_p.G156G	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	488					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						CCTCGGTGGAGCCCCCTTTGG	0.607												
PTPN3	5774	broad.mit.edu	37	9	112219457	112219457	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112219457T>C	uc004bed.2	-	4	397	c.285A>G	c.(283-285)TTA>TTG	p.L95L	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L95L|PTPN3_uc011lwh.1_Missense_Mutation_p.K13E|PTPN3_uc004bee.3_Silent_p.L95L	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	95	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						ACCAACCTTTTAACTGCTTCC	0.418												
HSDL2	84263	broad.mit.edu	37	9	115203985	115203985	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:115203985C>A	uc004bga.1	+	8	893	c.800C>A	c.(799-801)CCT>CAT	p.P267H	HSDL2_uc011lwv.1_Missense_Mutation_p.P146H|HSDL2_uc004bgb.1_Missense_Mutation_p.P101H|HSDL2_uc004bgc.1_Missense_Mutation_p.P194H|HSDL2_uc011lww.1_Missense_Mutation_p.P62H	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	267						peroxisome	oxidoreductase activity|sterol binding				0						TCAGGTCATCCTTTGCAACCA	0.289												
KIAA1958	158405	broad.mit.edu	37	9	115337496	115337496	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:115337496C>T	uc004bgf.1	+	2	1311	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	KIAA1958_uc011lwx.1_Missense_Mutation_p.A379V	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	379										skin(1)	1						GTCGCTCCAGCCATAACCACT	0.597												
COL27A1	85301	broad.mit.edu	37	9	116930329	116930329	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:116930329G>A	uc011lxl.1	+	3	494	c.494G>A	c.(493-495)GGC>GAC	p.G165D	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.G15D	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	165	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GAGCTCCGAGGCCGCACAGTC	0.706												
DFNB31	25861	broad.mit.edu	37	9	117165145	117165145	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:117165145C>T	uc004biz.3	-	12	3262	c.2613G>A	c.(2611-2613)ACG>ACA	p.T871T	DFNB31_uc004bix.2_Silent_p.T520T|DFNB31_uc004biy.3_Silent_p.T488T|DFNB31_uc004bja.3_Silent_p.T870T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	871	PDZ 3.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TGCCCCGAAGCGTCAGCCCAT	0.592												
TNC	3371	broad.mit.edu	37	9	117849041	117849041	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:117849041G>A	uc004bjj.3	-	3	1331	c.969C>T	c.(967-969)GGC>GGT	p.G323G	TNC_uc010mvf.2_Silent_p.G323G	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	323	EGF-like 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TGATGCAGCGGCCCCGGTCGA	0.607												
C5	727	broad.mit.edu	37	9	123722601	123722601	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:123722601T>C	uc004bkv.2	-	38	4633	c.4603A>G	c.(4603-4605)ATG>GTG	p.M1535V		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1535	NTR.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTTCCTGCATTTGCCCACAA	0.383												
DAB2IP	153090	broad.mit.edu	37	9	124535252	124535252	+	Silent	SNP	C	C	T	rs144586865	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:124535252C>T	uc004bln.2	+	12	2430	c.2361C>T	c.(2359-2361)GGC>GGT	p.G787G	DAB2IP_uc004blo.2_Silent_p.G691G|DAB2IP_uc004blp.2_Silent_p.G220G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	815					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCTCCGAGGGCGCGCCAGGCC	0.726												
CRB2	286204	broad.mit.edu	37	9	126128524	126128524	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:126128524G>A	uc004bnx.1	+	4	725	c.633G>A	c.(631-633)GCG>GCA	p.A211A	CRB2_uc004bnw.1_Silent_p.A211A	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	211	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCGACTGCGCGGGCACCGGCT	0.771												
ANGPTL2	23452	broad.mit.edu	37	9	129870996	129870996	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:129870996G>A	uc004bqr.1	-	2	515	c.15C>T	c.(13-15)TGC>TGT	p.C5C	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	5					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						AGCATGTCACGCACAGTGGCC	0.532												
AK1	203	broad.mit.edu	37	9	130630298	130630298	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:130630298C>T	uc004bsm.3	-	7	727	c.574G>A	c.(574-576)GCC>ACC	p.A192T		NM_000476	NP_000467	P00568	KAD1_HUMAN	adenylate kinase 1	192					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding				0						TACTTTAGGGCGTCCAGGTGG	0.667												
DNM1	1759	broad.mit.edu	37	9	130982549	130982549	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:130982549C>A	uc011mau.1	+	6	865	c.778C>A	c.(778-780)CTC>ATC	p.L260I	DNM1_uc010mxr.2_Missense_Mutation_p.L260I|DNM1_uc011mat.1_Missense_Mutation_p.L260I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	260					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						AAAGTTCTTCCTCTCCCATCC	0.562												
NUP188	23511	broad.mit.edu	37	9	131750408	131750408	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131750408C>G	uc004bws.1	+	24	2498	c.2476C>G	c.(2476-2478)CGG>GGG	p.R826G	NUP188_uc004bwu.2_Missense_Mutation_p.R169G	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	826					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CAATGTTATTCGGCTGAAACC	0.502												
NUP188	23511	broad.mit.edu	37	9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131760467G>A	uc004bws.1	+	31	3411	c.3389G>A	c.(3388-3390)CGC>CAC	p.R1130H	NUP188_uc004bwu.2_Missense_Mutation_p.R473H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GTGGTGCGTCGCCAGCTCTTT	0.438												
NUP188	23511	broad.mit.edu	37	9	131768572	131768572	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131768572G>A	uc004bws.1	+	43	5020	c.4998G>A	c.(4996-4998)GCG>GCA	p.A1666A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1666					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TCTCTCAGGCGATGCGGTACC	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAMC3	10319	broad.mit.edu	37	9	133901769	133901769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:133901769G>A	uc004caa.1	+	2	569	c.471G>A	c.(469-471)TGG>TGA	p.W157*		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	157	Laminin N-terminal.				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)		ACGGCCCATGGGAGCCCTACC	0.647												
NUP214	8021	broad.mit.edu	37	9	134026004	134026004	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:134026004T>G	uc004cag.2	+	16	2240	c.2129T>G	c.(2128-2130)ATT>AGT	p.I710S	NUP214_uc004cah.2_Missense_Mutation_p.I700S|NUP214_uc004cai.2_Missense_Mutation_p.I140S|NUP214_uc004caf.1_Missense_Mutation_p.I699S|NUP214_uc010mzf.2_Missense_Mutation_p.I8S	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	710	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTTCTACAGATTGCACACTTT	0.473			T	DEK|SET|ABL1	AML|T-ALL							
C9orf96	169436	broad.mit.edu	37	9	136270471	136270471	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:136270471G>A	uc004cdk.2	+	18	2030	c.1969G>A	c.(1969-1971)GCC>ACC	p.A657T	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	657							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGACAGCAGCGCCTTCAGCAA	0.592												
VAV2	7410	broad.mit.edu	37	9	136804319	136804319	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:136804319C>T	uc004ces.2	-	2	273	c.227G>A	c.(226-228)CGC>CAC	p.R76H	VAV2_uc004cer.2_Missense_Mutation_p.R76H	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	76	CH.				angiogenesis|apoptosis|axon guidance|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	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGAAGGTGCGTATGTTCTT	0.423												
COL5A1	1289	broad.mit.edu	37	9	137688237	137688237	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:137688237C>T	uc004cfe.2	+	35	3199	c.2817C>T	c.(2815-2817)GAC>GAT	p.D939D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	939	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGAGGTGACGGCCCAGCTG	0.567												
INPP5E	56623	broad.mit.edu	37	9	139327500	139327500	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139327500C>T	uc004cho.2	-	5	1572	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	INPP5E_uc010nbm.2_Missense_Mutation_p.R396H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	396						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGACACGATGCGTGTGGTCAC	0.612												
ABCA2	20	broad.mit.edu	37	9	139905693	139905693	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139905693G>A	uc011mem.1	-	37	6013	c.5865C>T	c.(5863-5865)CAC>CAT	p.H1955H	ABCA2_uc011mel.1_Silent_p.H1956H|ABCA2_uc004ckl.1_Silent_p.H1886H|ABCA2_uc004ckm.1_Silent_p.H1986H	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1955					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)		CCATGAGCCCGTGGCCCAGGT	0.622												
EXD3	54932	broad.mit.edu	37	9	140218289	140218289	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:140218289G>A	uc004cmp.2	-	19	2268	c.2072C>T	c.(2071-2073)GCT>GTT	p.A691V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A342V	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	691					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GCAGCGCCCAGCCCCGACCTG	0.677												
EHMT1	79813	broad.mit.edu	37	9	140611397	140611397	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:140611397G>A	uc011mfc.1	+	3	442	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q	EHMT1_uc004coa.2_Silent_p.Q135Q|EHMT1_uc004cob.1_Silent_p.Q104Q	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	135					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)		TACAGGCACAGCCCTTGAGGA	0.567												
NLGN4X	57502	broad.mit.edu	37	X	5810908	5810908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:5810908C>T	uc010ndh.2	-	6	2902	c.2401G>A	c.(2401-2403)GGA>AGA	p.G801R	NLGN4X_uc004crp.2_Missense_Mutation_p.G821R|NLGN4X_uc004crq.2_Missense_Mutation_p.G801R|NLGN4X_uc010ndi.2_Missense_Mutation_p.G838R|NLGN4X_uc004crr.2_Missense_Mutation_p.G801R|NLGN4X_uc010ndj.2_Missense_Mutation_p.G801R	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	801	Cytoplasmic (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CTGTTTTGTCCTCCACTGAAG	0.488												
KAL1	3730	broad.mit.edu	37	X	8565134	8565134	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:8565134T>G	uc004csf.2	-	4	632	c.482A>C	c.(481-483)AAG>ACG	p.K161T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	161	WAP.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						ACAACATTTCTTCACCCCAGA	0.537												
MID1	4281	broad.mit.edu	37	X	10535364	10535364	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:10535364C>T	uc004cte.3	-	2	415	c.224G>A	c.(223-225)CGC>CAC	p.R75H	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.R75H|MID1_uc004cth.3_Missense_Mutation_p.R75H|MID1_uc004ctk.3_Missense_Mutation_p.R75H|MID1_uc004cti.3_Missense_Mutation_p.R75H|MID1_uc004ctj.3_Missense_Mutation_p.R75H|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.R75H|MID1_uc004ctn.1_Missense_Mutation_p.R75H|MID1_uc004cto.1_Missense_Mutation_p.R75H|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.R75H|MID1_uc004ctu.2_Missense_Mutation_p.R75H|MID1_uc004ctv.2_Missense_Mutation_p.R75H|MID1_uc004ctw.2_Missense_Mutation_p.R75H|MID1_uc010ndy.1_Missense_Mutation_p.R75H|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.R75H|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.R75H|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Missense_Mutation_p.R75H|MID1_uc004cud.1_Missense_Mutation_p.R75H|MID1_uc004cue.1_Missense_Mutation_p.R75H|MID1_uc004cuf.1_Missense_Mutation_p.R75H|MID1_uc004cug.1_Missense_Mutation_p.R75H	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	75					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						GGTGACGTTGCGCTTGAGCCC	0.622												
RAI2	10742	broad.mit.edu	37	X	17818711	17818711	+	Missense_Mutation	SNP	C	C	T	rs147416008	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:17818711C>T	uc004cyf.2	-	3	1990	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	RAI2_uc004cyg.2_Missense_Mutation_p.V474M|RAI2_uc010nfa.2_Missense_Mutation_p.V474M|RAI2_uc004cyh.3_Missense_Mutation_p.V474M|RAI2_uc011miy.1_Missense_Mutation_p.V424M	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	474					embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					CCCTGAAGCACGGAGTCTTCT	0.478												
PHKA2	5256	broad.mit.edu	37	X	18958163	18958163	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:18958163G>A	uc004cyv.3	-	9	1298	c.868C>T	c.(868-870)CGT>TGT	p.R290C		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	290					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CATCCATAACGCCCCTAATAA	0.368												
SMS	6611	broad.mit.edu	37	X	21985370	21985370	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:21985370G>A	uc004dag.2	+	2	207	c.106G>A	c.(106-108)GCG>ACG	p.A36T	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.A36T	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	36					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	GCAGGGGATGGCGGAGTCGGT	0.522												
DMD	1756	broad.mit.edu	37	X	32662332	32662332	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:32662332T>G	uc004dda.1	-	11	1492	c.1248A>C	c.(1246-1248)GAA>GAC	p.E416D	DMD_uc004dcz.2_Missense_Mutation_p.E293D|DMD_uc004dcy.1_Missense_Mutation_p.E412D|DMD_uc004ddb.1_Missense_Mutation_p.E408D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E408D|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	416	Spectrin 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCAGTTTCTTCATCTTCTG	0.408												
CYBB	1536	broad.mit.edu	37	X	37665662	37665662	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:37665662G>A	uc004ddr.2	+	11	1398	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	CYBB_uc011mkf.1_Missense_Mutation_p.R414Q|CYBB_uc011mkg.1_Missense_Mutation_p.R179Q	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	446	Cytoplasmic (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TGGCTGTGCCGGGACACACAT	0.488												
RPGR	6103	broad.mit.edu	37	X	38160591	38160591	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:38160591C>T	uc004ded.1	-	9	1136	c.968G>A	c.(967-969)CGC>CAC	p.R323H	RPGR_uc004deb.2_Missense_Mutation_p.R323H|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R8H	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	323	RCC1 6.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTTTCCGTGGCGACCATCTCC	0.328												
DDX3X	1654	broad.mit.edu	37	X	41201758	41201758	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41201758C>T	uc004dfe.2	+	5	1150	c.295C>T	c.(295-297)CGT>TGT	p.R99C	DDX3X_uc010nhf.1_Missense_Mutation_p.R83C|DDX3X_uc004dff.2_Missense_Mutation_p.R99C|DDX3X_uc011mkq.1_Missense_Mutation_p.R83C|DDX3X_uc011mkr.1_Missense_Mutation_p.R99C|DDX3X_uc011mks.1_Missense_Mutation_p.R99C|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	99					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						GTTTGATGATCGTGGACGGAG	0.428										HNSCC(61;0.18)		
NYX	60506	broad.mit.edu	37	X	41333566	41333566	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41333566G>A	uc004dfh.2	+	2	1290	c.860G>A	c.(859-861)CGC>CAC	p.R287H	NYX_uc011mku.1_Missense_Mutation_p.R282H	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	287	LRR 10.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						TACCTGGACCGCAACAGCATC	0.701												
GPR82	27197	broad.mit.edu	37	X	41586781	41586781	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41586781A>G	uc004dfs.1	+	3	742	c.502A>G	c.(502-504)ATT>GTT	p.I168V	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.I168V|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	168	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GGGCATAATCATTCCAGTTAC	0.408												
DUSP21	63904	broad.mit.edu	37	X	44703615	44703615	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:44703615G>A	uc004dgd.2	+	1	367	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						CTCGTGACTCGCGTCTCTACG	0.527												
ELK1	2002	broad.mit.edu	37	X	47497297	47497297	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:47497297G>A	uc004dik.3	-	5	1261	c.939C>T	c.(937-939)GGC>GGT	p.G313G	ELK1_uc010nhv.2_Silent_p.G313G|ELK1_uc010nhw.2_Silent_p.G203G|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	313					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GGGGCTTCCGGCCCTTCTGCG	0.716												
ZNF81	347344	broad.mit.edu	37	X	47775652	47775652	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:47775652C>T	uc010nhy.1	+	6	1975	c.1607C>T	c.(1606-1608)ACC>ATC	p.T536I		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	536	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AAGGCCTTCACCGACAGGTCA	0.448												
TIMM17B	10245	broad.mit.edu	37	X	48751229	48751229	+	Silent	SNP	G	G	A	rs145478928	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:48751229G>A	uc004dlc.1	-	6	533	c.384C>T	c.(382-384)GGC>GGT	p.G128G	TIMM17B_uc004dla.1_Silent_p.G178G|TIMM17B_uc004dlb.1_Silent_p.G148G	NM_005834	NP_005825	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17	128	Helical; (Potential).				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						GGATGCCAACGCCCTCAATGA	0.597												
PRICKLE3	4007	broad.mit.edu	37	X	49032321	49032321	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:49032321T>C	uc004dmy.1	-	9	1575	c.1549A>G	c.(1549-1551)AAT>GAT	p.N517D	PRICKLE3_uc011mmv.1_Missense_Mutation_p.N449D|PRICKLE3_uc011mmw.1_Missense_Mutation_p.N436D|PRICKLE3_uc011mmx.1_Missense_Mutation_p.N479D	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	517	Poly-His.						protein binding|zinc ion binding			breast(1)	1						tgatggtgattatgatgatgg	0.602												
PPP1R3F	89801	broad.mit.edu	37	X	49127023	49127023	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:49127023G>A	uc004dnh.1	+	1	707	c.691G>A	c.(691-693)GCC>ACC	p.A231T	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	231	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCAGGCATCCGCCTCCTCGCC	0.736												
HUWE1	10075	broad.mit.edu	37	X	53575028	53575028	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:53575028G>A	uc004dsp.2	-	68	10644	c.10242C>T	c.(10240-10242)AGC>AGT	p.S3414S	HUWE1_uc004dsn.2_Silent_p.S2222S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3414					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CACCGCCAGCGCTCACTGGCA	0.557												
FGD1	2245	broad.mit.edu	37	X	54496700	54496700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54496700C>T	uc004dtg.2	-	4	1584	c.850G>A	c.(850-852)GGC>AGC	p.G284S	FGD1_uc011moi.1_Missense_Mutation_p.G42S	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	284	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTATCAATGCCGCTGTCCCGG	0.687												
ITIH5L	347365	broad.mit.edu	37	X	54780160	54780160	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54780160G>A	uc004dtj.2	-	11	3306	c.3276C>T	c.(3274-3276)CAC>CAT	p.H1092H		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1092					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TCTCTTCTGAGTGTGGGATTT	0.502												
TRO	7216	broad.mit.edu	37	X	54949190	54949190	+	Silent	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54949190T>G	uc004dtq.2	+	3	332	c.225T>G	c.(223-225)CCT>CCG	p.P75P	TRO_uc011moj.1_Silent_p.P18P|TRO_uc004dts.2_Silent_p.P75P|TRO_uc004dtr.2_Silent_p.P75P|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	75					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						AGAAGGCCCCTATAAAGACTA	0.532												
TRO	7216	broad.mit.edu	37	X	54953052	54953052	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54953052G>A	uc004dtq.2	+	9	1801	c.1694G>A	c.(1693-1695)CGC>CAC	p.R565H	TRO_uc004dts.2_Missense_Mutation_p.R565H|TRO_uc004dtr.2_Missense_Mutation_p.R565H|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.R168H|TRO_uc011mok.1_Missense_Mutation_p.R96H|TRO_uc004dtw.2_Missense_Mutation_p.R168H|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	565	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						TTGGGGCTGCGCCCTGGGTAT	0.577												
FAM123B	139285	broad.mit.edu	37	X	63412262	63412262	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:63412262T>C	uc004dvo.2	-	2	1178	c.905A>G	c.(904-906)AAT>AGT	p.N302S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	302					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CACAGGGCCATTGGGTGGGTT	0.537												
MSN	4478	broad.mit.edu	37	X	64955210	64955210	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:64955210C>T	uc004dwf.2	+	8	1075	c.877C>T	c.(877-879)CGC>TGC	p.R293C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	293	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						ACTATACATGCGCCGTCGCAA	0.557			T	ALK	ALCL							
AR	367	broad.mit.edu	37	X	66765826	66765826	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:66765826C>T	uc004dwu.1	+	1	1953	c.838C>T	c.(838-840)CGT>TGT	p.R280C	AR_uc011mpd.1_Missense_Mutation_p.R280C|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.R280C	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	278	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACCCGCTGTGCGTCCCACTCC	0.577									Androgen_Insensitivity_Syndrome			
HDAC8	55869	broad.mit.edu	37	X	71788641	71788641	+	Silent	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:71788641G>A	uc004eau.2	-	3	300	c.258C>T	c.(256-258)GGC>GGT	p.G86G	HDAC8_uc011mqe.1_5'Flank|HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Intron|HDAC8_uc004eav.2_Silent_p.G86G|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	86	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion 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 factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)	GATCATCATCGCCCTCTTGGC	0.448												
MAGEE1	57692	broad.mit.edu	37	X	75649600	75649600	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:75649600C>A	uc004ecm.1	+	1	1484	c.1277C>A	c.(1276-1278)CCC>CAC	p.P426H		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	426						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GACCGGAACCCCTCCAAGTGT	0.587												
CYLC1	1538	broad.mit.edu	37	X	83128395	83128395	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:83128395T>G	uc004eei.1	+	4	700	c.679T>G	c.(679-681)TCA>GCA	p.S227A	CYLC1_uc004eeh.1_Missense_Mutation_p.S226A	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	227					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TTTGAAGAGGTCAAAGACTAG	0.318												
ZNF711	7552	broad.mit.edu	37	X	84510604	84510604	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:84510604A>C	uc004eeo.2	+	4	766	c.419A>C	c.(418-420)CAC>CCC	p.H140P	ZNF711_uc004eep.2_Missense_Mutation_p.H140P|ZNF711_uc004eeq.2_Missense_Mutation_p.H140P	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	140					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						CCTAATGGACACTTAGAACAT	0.428												
DACH2	117154	broad.mit.edu	37	X	85404035	85404035	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:85404035C>G	uc004eew.2	+	1	581	c.411C>G	c.(409-411)ATC>ATG	p.I137M	DACH2_uc004eex.2_Missense_Mutation_p.I137M|DACH2_uc010nmq.2_Translation_Start_Site	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	137	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TGGGGGCCATCCAGCCCGGGG	0.557												
RPA4	29935	broad.mit.edu	37	X	96139929	96139929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:96139929G>A	uc004efv.3	+	1	918	c.620G>A	c.(619-621)CGT>CAT	p.R207H	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	207					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						GAAGTGCTGCGTTTGATTCAT	0.507								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
RPA4	29935	broad.mit.edu	37	X	96140040	96140040	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:96140040T>C	uc004efv.3	+	1	1029	c.731T>C	c.(730-732)GTT>GCT	p.V244A	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	244					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						TATCTGACCGTTGAGGGCCAC	0.512								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
HNRNPH2	3188	broad.mit.edu	37	X	100667424	100667424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100667424C>T	uc004ehm.2	+	2	618	c.448C>T	c.(448-450)CGA>TGA	p.R150*	HNRNPH2_uc004ehn.2_Nonsense_Mutation_p.R150*	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	150	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CTTTCAGGGGCGAAGCACAGG	0.473												
ARMCX3	51566	broad.mit.edu	37	X	100880572	100880572	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100880572A>T	uc004ehz.1	+	5	1136	c.603A>T	c.(601-603)AAA>AAT	p.K201N	ARMCX3_uc004eia.1_Missense_Mutation_p.K201N|ARMCX3_uc004eib.1_Missense_Mutation_p.K201N|ARMCX3_uc004eic.1_Missense_Mutation_p.K201N	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	201						integral to membrane	binding			ovary(1)|lung(1)	2						GCAGGCTTAAAGTATACATGA	0.398												
ARMCX2	9823	broad.mit.edu	37	X	100911645	100911645	+	Silent	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100911645G>T	uc004eid.2	-	3	1285	c.930C>A	c.(928-930)GGC>GGA	p.G310G	ARMCX2_uc004eie.3_Silent_p.G310G|ARMCX2_uc004eif.3_Silent_p.G310G|ARMCX2_uc004eig.3_Silent_p.G310G|ARMCX2_uc010nnt.2_Silent_p.G310G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	310						integral to membrane	binding			ovary(6)	6						CAGGACGGAAGCCCATCCCCA	0.597												
ARMCX2	9823	broad.mit.edu	37	X	100912155	100912155	+	Silent	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100912155T>C	uc004eid.2	-	3	775	c.420A>G	c.(418-420)GCA>GCG	p.A140A	ARMCX2_uc004eie.3_Silent_p.A140A|ARMCX2_uc004eif.3_Silent_p.A140A|ARMCX2_uc004eig.3_Silent_p.A140A|ARMCX2_uc010nnt.2_Silent_p.A140A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	140	Ala-rich.					integral to membrane	binding			ovary(6)	6						CGGGAGGTGGTGCTATTGCAG	0.627												
PRPS1	5631	broad.mit.edu	37	X	106890852	106890852	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:106890852G>A	uc004ene.3	+	6	926	c.721G>A	c.(721-723)GCC>ACC	p.A241T	PRPS1_uc010npg.2_Missense_Mutation_p.A208T|PRPS1_uc011msj.1_Missense_Mutation_p.A37T	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	241					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|large_intestine(1)	4						CTCAGCTGGCGCCACCAGAGT	0.438												
TSC22D3	1831	broad.mit.edu	37	X	106959928	106959928	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:106959928C>T	uc004eng.2	-	1	364	c.114G>A	c.(112-114)CTG>CTA	p.L38L	TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	38	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity				0						ACCTGTTGTCCAGCTTAACGG	0.637												
TEX13B	56156	broad.mit.edu	37	X	107225281	107225281	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107225281G>A	uc004enn.1	-	2	170	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	26										ovary(1)	1						CGTGTGCCTGGCCATTTTCTC	0.562												
COL4A5	1287	broad.mit.edu	37	X	107869522	107869522	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107869522C>T	uc004enz.1	+	36	3391	c.3189C>T	c.(3187-3189)GGC>GGT	p.G1063G	COL4A5_uc011mso.1_Silent_p.G1063G|COL4A5_uc004eob.1_Silent_p.G671G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1063	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GACAGAAAGGCGACAAAGGTG	0.488									Alport_syndrome_with_Diffuse_Leiomyomatosis			
COL4A5	1287	broad.mit.edu	37	X	107909801	107909801	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107909801C>A	uc004enz.1	+	39	3732	c.3530C>A	c.(3529-3531)CCA>CAA	p.P1177Q	COL4A5_uc011mso.1_Missense_Mutation_p.P1177Q	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1177	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATTCCTGGACCAGCTGGACAG	0.443									Alport_syndrome_with_Diffuse_Leiomyomatosis			
GUCY2F	2986	broad.mit.edu	37	X	108718609	108718609	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:108718609G>T	uc004eod.3	-	2	833	c.557C>A	c.(556-558)GCT>GAT	p.A186D	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	186	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TCCAGCATGAGCCCACTGGAA	0.478											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC25A43	203427	broad.mit.edu	37	X	118586962	118586962	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:118586962G>T	uc004erd.2	+	5	1304	c.960G>T	c.(958-960)CAG>CAT	p.Q320H	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	320					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						TGCAGCCCCAGGAATTACGAG	0.398												
UBE2A	7319	broad.mit.edu	37	X	118717107	118717107	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:118717107C>A	uc004erl.2	+	6	524	c.348C>A	c.(346-348)CCC>CCA	p.P116P	UBE2A_uc004erm.2_Silent_p.P86P|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Silent_p.P41P	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	116					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						TGGATGAACCCAATCCCAATA	0.398								Direct_reversal_of_damage|Rad6_pathway				
THOC2	57187	broad.mit.edu	37	X	122755101	122755101	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:122755101A>G	uc004etu.2	-	31	4155	c.4123T>C	c.(4123-4125)TCA>CCA	p.S1375P	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.S196P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1375	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TTTTCCTTTGATTTCATTTCC	0.413												
DCAF12L2	340578	broad.mit.edu	37	X	125299270	125299270	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:125299270C>T	uc004euk.1	-	1	665	c.638G>A	c.(637-639)CGC>CAC	p.R213H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	213	WD 2.							p.R213C(1)		lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGTGCCGTCGCGGGAGCCGCT	0.642												
DCAF12L1	139170	broad.mit.edu	37	X	125686047	125686047	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:125686047A>T	uc004eul.2	-	1	796	c.545T>A	c.(544-546)CTG>CAG	p.L182Q		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	182	WD 1.									skin(3)|ovary(1)	4						CAGGGGATCCAGGGAGGGCAG	0.672												
OCRL	4952	broad.mit.edu	37	X	128710001	128710001	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:128710001G>T	uc004euq.2	+	17	2006	c.1841G>T	c.(1840-1842)TGG>TTG	p.W614L	OCRL_uc004eur.2_Missense_Mutation_p.W614L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	614					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						TGCAAGCCATGGCTTCGGGCT	0.468												
OR13H1	347468	broad.mit.edu	37	X	130678804	130678804	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:130678804T>C	uc011muw.1	+	1	757	c.757T>C	c.(757-759)TCA>CCA	p.S253P	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)					CTTCTATGGGTCAGCCATCTC	0.478												
ATP11C	286410	broad.mit.edu	37	X	138864876	138864876	+	Silent	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:138864876C>T	uc004faz.2	-	18	1890	c.1791G>A	c.(1789-1791)CGG>CGA	p.R597R	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.R597R	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	597	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CACAGAGTGTCCGATACCCAT	0.358												
UBE2NL	389898	broad.mit.edu	37	X	142967464	142967464	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967464A>T	uc004fca.2	+	1	292	c.262A>T	c.(262-264)AGT>TGT	p.S88C		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	88							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAAGAATAAGTTTAGATAT	0.418												
UBE2NL	389898	broad.mit.edu	37	X	142967499	142967499	+	Silent	SNP	C	C	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967499C>A	uc004fca.2	+	1	327	c.297C>A	c.(295-297)GCC>GCA	p.A99A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	99							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCCCAGCCCTGCAGATCC	0.423												
UBE2NL	389898	broad.mit.edu	37	X	142967582	142967582	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967582T>C	uc004fca.2	+	1	410	c.380T>C	c.(379-381)GTG>GCG	p.V127A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	127							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					AATGATGTAGTGGAGCAGTGG	0.453												
UBE2NL	389898	broad.mit.edu	37	X	142967616	142967616	+	Silent	SNP	T	T	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967616T>A	uc004fca.2	+	1	444	c.414T>A	c.(412-414)ATT>ATA	p.I138I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	138							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAGCCATTGAAACAGCTA	0.428												
UBE2NL	389898	broad.mit.edu	37	X	142967657	142967657	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967657G>A	uc004fca.2	+	1	485	c.455G>A	c.(454-456)AGT>AAT	p.S152N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	152							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATGAATAGTATTTAAATT	0.398												
MTMR1	8776	broad.mit.edu	37	X	149901161	149901161	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:149901161A>G	uc004fei.2	+	9	1150	c.1015A>G	c.(1015-1017)ATC>GTC	p.I339V	MTMR1_uc011mya.1_Missense_Mutation_p.I245V|MTMR1_uc004feg.1_Missense_Mutation_p.I339V|MTMR1_uc004feh.1_Missense_Mutation_p.I347V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	339	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCTTATCATCTTTGATGC	0.413												
L1CAM	3897	broad.mit.edu	37	X	153129001	153129001	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153129001T>G	uc004fjb.2	-	26	3569	c.3461A>C	c.(3460-3462)AAG>ACG	p.K1154T	L1CAM_uc004fjc.2_Missense_Mutation_p.K1154T|L1CAM_uc010nuo.2_Missense_Mutation_p.K1149T	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1154	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTTATCCTTCACTGGAGA	0.642												
HCFC1	3054	broad.mit.edu	37	X	153223661	153223661	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153223661C>T	uc004fjp.2	-	11	2371	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	615	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCTGGGCGGCTGCAGTC	0.607												
FLNA	2316	broad.mit.edu	37	X	153592993	153592993	+	Silent	SNP	G	G	A	rs80338841		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153592993G>A	uc004fkk.2	-	13	2172	c.1923C>T	c.(1921-1923)GGC>GGT	p.G641G	FLNA_uc010nuu.1_Silent_p.G641G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	641	Filamin 4.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CGGCATACTCGCCAGCCTCCT	0.622												
CLIC2	1193	broad.mit.edu	37	X	154563727	154563727	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:154563727G>T	uc004fnf.2	-	1	260	c.10C>A	c.(10-12)CTG>ATG	p.L4M	CLIC2_uc010nvj.1_Missense_Mutation_p.L4M	NM_001289	NP_001280	O15247	CLIC2_HUMAN	chloride intracellular channel 2	4	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGGGCCGCAGGCCTGACATC	0.413												
C1orf177	163747	broad.mit.edu	37	1	55279487	55279487	+	Splice_Site	DEL	A	A	-	rs76967836		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:55279486_55279486GA>G	uc001cyb.4	+	7	817	c.763_splice	c.e7-1	p.K255_splice	C1orf177_uc001cya.4_Splice_Site_p.K255_splice	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	255										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTTTTTCTTAGAAAAAAAAGC	0.413												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
RBM43	375287	broad.mit.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284												
MYLK	4638	broad.mit.edu	37	3	123368044	123368044	+	Splice_Site	DEL	G	G	-	rs138786404		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622												
WDFY3	23001	broad.mit.edu	37	4	85741342	85741342	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGTCCCCTAAAAAAAGGT	0.323												
MCC	4163	broad.mit.edu	37	5	112403779	112403780	+	Splice_Site	INS	-	-	G	rs35269015	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112403778_112403779A>AG	uc003kql.4	-	13	2445	c.2029_splice	c.e13+1	p.G677_splice	MCC_uc003kqj.4_Splice_Site_p.G487_splice|MCC_uc003kqk.4_Splice_Site|MCC_uc011cwb.1_Splice_Site_p.G487_splice	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GACACTTACCAGGGGAGGACCC	0.604												
SGK3	23678	broad.mit.edu	37	8	67716612	67716612	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aaattttagttaaaaaaaCAG	0.299												
PAN2	9924	broad.mit.edu	37	12	56712865	56712876	+	Splice_Site	DEL	AACTCACCCAGA	AACTCACCCAGA	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56712864_56712875CAACTCACCCAGA>C	uc001skx.3	-	24	3753	c.3376_splice	c.e24+1	p.D1126_splice	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Splice_Site_p.D274_splice|PAN2_uc001sky.3_Splice_Site_p.D1122_splice|PAN2_uc001skz.3_Splice_Site_p.D1125_splice	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1126	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAAGGCAGAGCAACTCACCCAGAAAGTACCAA	0.481												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
BAIAP2L2	80115	broad.mit.edu	37	22	38493188	38493188	+	Splice_Site	DEL	G	G	-	rs147219790	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38493187_38493187TG>T	uc003auw.3	-	7	610	c.466_splice	c.e7-1	p.E156_splice		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	156	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CACACTCTCCTGGGGGGGAAC	0.637												
NAV1	89796	broad.mit.edu	37	1	201618272	201618272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:201618272delC	uc001gwu.2	+	1	823	c.476delC	c.(475-477)ACCfs	p.T159fs		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GGCGCCAAGACCCCCCTGGCT	0.697												
CDK18	5129	broad.mit.edu	37	1	205492639	205492639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:205492639delC	uc001hcr.2	+	3	378	c.159delC	c.(157-159)GACfs	p.D53fs	CDK18_uc009xbk.1_RNA|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_Frame_Shift_Del_p.P74fs|CDK18_uc001hcp.2_Frame_Shift_Del_p.D53fs|CDK18_uc001hcq.2_Frame_Shift_Del_p.D53fs|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	51							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						TTGGCAGAGACCCCCCGCAGG	0.682												
CENPF	1063	broad.mit.edu	37	1	214819474	214819474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:214819474delA	uc001hkm.2	+	13	6735	c.6561delA	c.(6559-6561)CTAfs	p.L2187fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2283	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAGACTCTAAAAACACAAA	0.373												
LRIT1	26103	broad.mit.edu	37	10	86001144	86001144	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:86001144delG	uc001kcz.1	-	1	74	c.52delC	c.(52-54)CAGfs	p.Q18fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	18						integral to endoplasmic reticulum membrane					0						CCCCGGGCCTGGGGGGGCCAC	0.672												
PSD	5662	broad.mit.edu	37	10	104174959	104174959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:104174959delG	uc001kvg.1	-	4	1312	c.785delC	c.(784-786)CCAfs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	262					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTGGAGATGGGGGGGCCTG	0.627												
PDZD8	118987	broad.mit.edu	37	10	119042898	119042898	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:119042898delT	uc001lde.1	-	5	3545	c.3346delA	c.(3346-3348)ATAfs	p.I1116fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1116					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TACTTGCTTATTTTTTTGGAG	0.368												
NR1H3	10062	broad.mit.edu	37	11	47282887	47282887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47282887delC	uc009ylm.2	+	5	816	c.595delC	c.(595-597)CCCfs	p.P199fs	NR1H3_uc009yll.1_Frame_Shift_Del_p.P205fs|NR1H3_uc010rhk.1_Frame_Shift_Del_p.P205fs|NR1H3_uc001nek.2_Frame_Shift_Del_p.P154fs|NR1H3_uc001nej.2_Frame_Shift_Del_p.P199fs|NR1H3_uc001nel.2_Frame_Shift_Del_p.P154fs|NR1H3_uc001nen.3_Frame_Shift_Del_p.P199fs|NR1H3_uc001nem.2_Frame_Shift_Del_p.P199fs|NR1H3_uc001nep.2_Frame_Shift_Del_p.P108fs	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	199					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						GGCTTCCTCACCCCCCCAAAT	0.592												
OR9K2	441639	broad.mit.edu	37	12	55524524	55524524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:55524524delA	uc010spe.1	+	1	972	c.972delA	c.(970-972)CTAfs	p.L324fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	324	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						AAGAGGCTCTAAAAAAATTTC	0.323												
CCDC38	120935	broad.mit.edu	37	12	96288870	96288870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:96288870delA	uc001tek.1	-	8	903	c.669delT	c.(667-669)TTTfs	p.F223fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	223										skin(1)	1						TTTGCAGCAGAAAAAAACCAT	0.338												
ITGAL	3683	broad.mit.edu	37	16	30522245	30522245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:30522245delG	uc002dyi.3	+	23	2839	c.2663delG	c.(2662-2664)TGGfs	p.W888fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.W804fs|ITGAL_uc010vev.1_Frame_Shift_Del_p.W122fs	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	888	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	AACAGCTCCTGGGGGGACTCG	0.562												
TXNL4B	54957	broad.mit.edu	37	16	72120608	72120608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:72120608delC	uc002fca.2	-	4	689	c.378delG	c.(376-378)GGGfs	p.G126fs	TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.1_Frame_Shift_Del_p.G126fs|TXNL4B_uc010vmo.1_Frame_Shift_Del_p.G126fs	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	126					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1						CAATAAGCTTCCCCCTCATTG	0.368												
KLHDC4	54758	broad.mit.edu	37	16	87790005	87790005	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:87790005delT	uc002fki.2	-	3	316	c.270delA	c.(268-270)AAAfs	p.K90fs	KLHDC4_uc002fkj.2_Frame_Shift_Del_p.K90fs|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	90	Kelch 1.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATACTTTACTTTTTGGCCGT	0.393												
ZBTB4	57659	broad.mit.edu	37	17	7369233	7369233	+	Frame_Shift_Del	DEL	G	G	-	rs148445568		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:7369233delG	uc002ghc.3	-	3	1138	c.888delC	c.(886-888)CCCfs	p.P296fs	ZBTB4_uc002ghd.3_Frame_Shift_Del_p.P296fs	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCACGTGCTCGGGGCCCCCTC	0.687												
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:7578275_7578277delGAG	uc002gim.2	-	6	766_768	c.572_574delCTC	c.(571-576)CCTCAG>CAG	p.P191del	TP53_uc002gig.1_In_Frame_Del_p.P191del|TP53_uc002gih.2_In_Frame_Del_p.P191del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.P59del|TP53_uc010cng.1_In_Frame_Del_p.P59del|TP53_uc002gii.1_In_Frame_Del_p.P59del|TP53_uc010cnh.1_In_Frame_Del_p.P191del|TP53_uc010cni.1_In_Frame_Del_p.P191del|TP53_uc002gij.2_In_Frame_Del_p.P191del|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_In_Frame_Del_p.P98del|TP53_uc002gio.2_In_Frame_Del_p.P59del|TP53_uc010vug.1_In_Frame_Del_p.P152del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	191	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.P191del(5)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*56(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.P191S(2)|p.G187fs*16(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191H(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.P191T(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCCAG	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
RAI1	10743	broad.mit.edu	37	17	17696630	17696630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:17696630delC	uc002grm.2	+	3	837	c.368delC	c.(367-369)GCCfs	p.A123fs	RAI1_uc002grn.1_Frame_Shift_Del_p.A123fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	123						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCTTGGGGGGCCCCACAGCCA	0.657												
CPD	1362	broad.mit.edu	37	17	28706682	28706683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28706682_28706683insC	uc002hfb.1	+	1	699_700	c.684_685insC	c.(682-687)GAACCCfs	p.E228fs	CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	228_229	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCACCGGCGAACCCCCCGCCCT	0.703												
KLHL10	317719	broad.mit.edu	37	17	40001675	40001675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40001675delC	uc010cxr.2	+	3	1124	c.982delC	c.(982-984)CCCfs	p.P328fs	KLHL10_uc010wfv.1_Frame_Shift_Del_p.P322fs|KLHL10_uc010wfw.1_Frame_Shift_Del_p.P240fs	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	328	Kelch 1.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGAAGAGAGTCCCCGTGCCTA	0.498												
SLC39A6	25800	broad.mit.edu	37	18	33694188	33694188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:33694188delT	uc010dmy.2	-	7	2005	c.1715delA	c.(1714-1716)AACfs	p.N572fs	SLC39A6_uc002kzj.2_Frame_Shift_Del_p.N297fs	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	572	His-rich.|Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						aggatggtggttttggtggtg	0.323												
MAST1	22983	broad.mit.edu	37	19	12985060	12985060	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12985060delG	uc002mvm.2	+	26	4217	c.4089delG	c.(4087-4089)CCGfs	p.P1363fs		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1363					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AGGAATCCCCGGGGGGCGCCG	0.736												
NOTCH3	4854	broad.mit.edu	37	19	15289970	15289970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15289970delG	uc002nan.2	-	22	3660	c.3584delC	c.(3583-3585)CCAfs	p.P1195fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.P1143fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1195	Extracellular (Potential).|EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGTGTATCCTGGGGGACAGGT	0.667												
AP1M1	8907	broad.mit.edu	37	19	16319879	16319879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:16319879delC	uc002ndu.2	+	5	610	c.437delC	c.(436-438)GCCfs	p.A146fs	AP1M1_uc002ndv.2_Frame_Shift_Del_p.A146fs|AP1M1_uc010xpd.1_Frame_Shift_Del_p.A146fs	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					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						GAAACAGGGGCCCCGCGGCCA	0.612												
CPAMD8	27151	broad.mit.edu	37	19	17039884	17039884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:17039884delC	uc002nfb.2	-	24	3185	c.3153delG	c.(3151-3153)GGGfs	p.G1051fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTTCTGATGCCCCCCCAGGA	0.587												
POU2F2	5452	broad.mit.edu	37	19	42599543	42599544	+	Frame_Shift_Ins	INS	-	-	CGGATCA			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42599543_42599544insCGGATCA	uc002osp.2	-	11	1092_1093	c.1025_1026insTGATCCG	c.(1024-1026)CGCfs	p.R342fs	POU2F2_uc002osn.2_Frame_Shift_Ins_p.R326fs|POU2F2_uc002oso.2_Frame_Shift_Ins_p.R115fs|POU2F2_uc002osq.2_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osr.1_Frame_Shift_Ins_p.R342fs	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	342	Homeobox.			VIR->FNP: Suppresses DNA-binding ability.	humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				AGAACCAGACGCGGATCACTTC	0.644												
IWS1	55677	broad.mit.edu	37	2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423												
R3HDM1	23518	broad.mit.edu	37	2	136480084	136480084	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:136480084delA	uc002tuo.2	+	25	3275	c.2905delA	c.(2905-2907)AAAfs	p.K969fs	R3HDM1_uc010fni.2_Frame_Shift_Del_p.K968fs|R3HDM1_uc002tup.2_Frame_Shift_Del_p.K914fs|R3HDM1_uc010zbh.1_Frame_Shift_Del_p.K717fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	969							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAGACAAGCTAAAAAAGCTGC	0.458												
CCDC148	130940	broad.mit.edu	37	2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:159077217delT	uc002tzq.2	-	11	1523	c.1260delA	c.(1258-1260)AAAfs	p.K420fs	CCDC148_uc002tzr.2_Frame_Shift_Del_p.K268fs|CCDC148_uc010foh.2_Frame_Shift_Del_p.K133fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.									ovary(2)	2						TGGCCCAGTATTTTTTTATCT	0.318												
SCN1A	6323	broad.mit.edu	37	2	166905432	166905432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166905432delA	uc010zcz.1	-	7	1010	c.992delT	c.(991-993)TTAfs	p.L331fs	SCN1A_uc002udo.3_Frame_Shift_Del_p.L200fs|SCN1A_uc010fpk.2_Frame_Shift_Del_p.L200fs	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	331	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAGTGCATCTAAAAAACCCTC	0.264												
NBEAL2	23218	broad.mit.edu	37	3	47046463	47046464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47046463_47046464insC	uc003cqp.2	+	39	6475_6476	c.6296_6297insC	c.(6295-6297)TTCfs	p.F2099fs	NBEAL2_uc010hjm.1_Frame_Shift_Ins_p.F1476fs|NBEAL2_uc010hjn.1_Frame_Shift_Ins_p.F495fs|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2099	BEACH.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGTGGCCAGTTCCCCTGGGTCC	0.668												
ABTB1	80325	broad.mit.edu	37	3	127396115	127396115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:127396115delC	uc003ejt.2	+	8	836	c.748delC	c.(748-750)CCCfs	p.P250fs	ABTB1_uc003ejr.2_Frame_Shift_Del_p.P108fs|ABTB1_uc003ejs.2_Frame_Shift_Del_p.P225fs|ABTB1_uc003eju.2_Frame_Shift_Del_p.P108fs|ABTB1_uc010hsm.2_Frame_Shift_Del_p.P10fs	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	250						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						TTGTGCCCTGCCCCCCGAGCT	0.637												
COL6A6	131873	broad.mit.edu	37	3	130394240	130394240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:130394240delA	uc010htl.2	+	36	6822	c.6791delA	c.(6790-6792)TAAfs	p.*2264fs	COL6A6_uc003eni.3_Frame_Shift_Del_p.*363fs	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2264					axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CAACATGATTAAAAAAATGCT	0.378												
PIK3CB	5291	broad.mit.edu	37	3	138431111	138431111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:138431111delA	uc011bmq.1	-	8	1338	c.1338delT	c.(1336-1338)TTTfs	p.F446fs	PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Frame_Shift_Del_p.F50fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	446	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						CTTTAAAGTCAAAAACCATCG	0.338												
TTC14	151613	broad.mit.edu	37	3	180320724	180320725	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:180320724_180320725insA	uc003fkk.2	+	2	339_340	c.207_208insA	c.(205-210)TCCAAAfs	p.S69fs	TTC14_uc003fkl.2_Frame_Shift_Ins_p.S69fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.S69fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	69_70							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATTCATCTCCAAAAAAGCGGA	0.342												
B3GNT5	84002	broad.mit.edu	37	3	182987793	182987793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:182987793delG	uc003flk.2	+	2	737	c.207delG	c.(205-207)GCGfs	p.A69fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Frame_Shift_Del_p.A69fs|B3GNT5_uc003flm.2_Frame_Shift_Del_p.A69fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	69	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACACCTCAGCGGGGCCTCGCT	0.398												
BOD1L	259282	broad.mit.edu	37	4	13584277	13584277	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:13584277delT	uc003gmz.1	-	18	8634	c.8517delA	c.(8515-8517)AAAfs	p.K2839fs		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2839							DNA binding			ovary(5)|breast(1)	6						TTTACTCACCTTTTTCTTCCA	0.403												
BST1	683	broad.mit.edu	37	4	15717330	15717330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:15717330delT	uc003goh.3	+	6	807	c.612delT	c.(610-612)GGTfs	p.G204fs	BST1_uc003goi.2_Frame_Shift_Del_p.G15fs	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	204					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						TGTTTCTCAGTTTTTTTGCAG	0.318												
CFI	3426	broad.mit.edu	37	4	110667481	110667481	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:110667481delT	uc003hzr.3	-	11	1534	c.1326delA	c.(1324-1326)AAAfs	p.K442fs	CFI_uc003hzq.2_Frame_Shift_Del_p.K239fs|CFI_uc011cft.1_Frame_Shift_Del_p.K450fs|CFI_uc003hzs.3_Frame_Shift_Del_p.K435fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	442	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GCTCACAATCTTTTTTGTTTC	0.418												
SYNPO2	171024	broad.mit.edu	37	4	119810241	119810241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:119810241delG	uc003icm.3	+	1	246	c.50delG	c.(49-51)TGGfs	p.W17fs	SYNPO2_uc010ina.2_Frame_Shift_Del_p.W17fs|SYNPO2_uc010inb.2_Frame_Shift_Del_p.W17fs|SYNPO2_uc011cgh.1_Frame_Shift_Del_p.W17fs	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	17	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						GGGGCGCCCTGGGGGTTCAGA	0.527												
ISL1	3670	broad.mit.edu	37	5	50679529	50679529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:50679529delA	uc003jor.2	+	1	572	c.24delA	c.(22-24)CCAfs	p.P8fs	uc003joq.1_5'Flank	NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	8					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				GAGATCCACCAAAAAGTAAGA	0.512												
APC	324	broad.mit.edu	37	5	112175650	112175651	+	Frame_Shift_Ins	INS	-	-	A	rs111866410	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112175650_112175651insA	uc010jby.2	+	16	4739_4740	c.4359_4360insA	c.(4357-4362)CCTAAAfs	p.P1453fs	APC_uc011cvt.1_Frame_Shift_Ins_p.P1435fs|APC_uc003kpz.3_Frame_Shift_Ins_p.P1453fs|APC_uc003kpy.3_Frame_Shift_Ins_p.P1453fs|APC_uc010jbz.2_Frame_Shift_Ins_p.P1170fs|APC_uc010jca.2_Frame_Shift_Ins_p.P753fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1453_1454	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1453fs*20(3)|p.K1454E(3)|p.P1453S(1)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1453fs*4(1)|p.P1453fs*19(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAAGTACCTAAAAATAAAGC	0.480		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
TDP2	51567	broad.mit.edu	37	6	24653291	24653291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24653291delT	uc003nej.2	-	6	752	c.727delA	c.(727-729)ATGfs	p.M243fs	TDP2_uc003nei.2_Frame_Shift_Del_p.M131fs|TDP2_uc010jpu.1_Frame_Shift_Del_p.M243fs	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	243					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TTTAAAACCATTTTTAACTGA	0.443								Direct_reversal_of_damage|Editing_and_processing_nucleases				
PKHD1	5314	broad.mit.edu	37	6	51930802	51930802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:51930802delA	uc003pah.1	-	12	1128	c.852delT	c.(850-852)TTTfs	p.F284fs	PKHD1_uc003pai.2_Frame_Shift_Del_p.F284fs	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	284	IPT/TIG 3.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGAATTGTCAAAAAAGTCTC	0.358												
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:70991121delG	uc003pfg.3	-	8	1007	c.848delC	c.(847-849)CCTfs	p.P283fs	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TGGAACTCCAGGGGGGCCCGG	0.592												
KIAA0776	23376	broad.mit.edu	37	6	96996089	96996089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:96996089delT	uc003por.2	+	13	1500	c.1452delT	c.(1450-1452)GATfs	p.D484fs	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	484					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		AGATTGAAGATTTTTTAAGAA	0.313												
CDC40	51362	broad.mit.edu	37	6	110550119	110550119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:110550119delT	uc003pua.2	+	14	1526	c.1502delT	c.(1501-1503)ATTfs	p.I501fs		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	501					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AAGAAAAAAATTTTTAAGGGC	0.333												
PDE10A	10846	broad.mit.edu	37	6	165806196	165806196	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:165806196delG	uc003qun.2	-	17	1806	c.1565delC	c.(1564-1566)ACTfs	p.T522fs	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Frame_Shift_Del_p.T452fs|PDE10A_uc003quo.2_Frame_Shift_Del_p.T532fs	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	522					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGTGCTACAGTGACCGCATG	0.448												
ZMIZ2	83637	broad.mit.edu	37	7	44799789	44799789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44799789delG	uc003tlr.2	+	8	1156	c.1033delG	c.(1033-1035)GGGfs	p.G345fs	ZMIZ2_uc003tlq.2_Intron|ZMIZ2_uc003tls.2_Intron|ZMIZ2_uc003tlt.2_5'UTR|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	345	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CAGCTTCAACGGGGGCAGCGT	0.687												
IKBKB	3551	broad.mit.edu	37	8	42179452	42179452	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:42179452delA	uc003xow.1	+	17	1904	c.1727delA	c.(1726-1728)GAAfs	p.E576fs	IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Frame_Shift_Del_p.E353fs|IKBKB_uc003xox.1_Frame_Shift_Del_p.E297fs|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Frame_Shift_Del_p.E574fs|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Frame_Shift_Del_p.E517fs	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	576					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGACTAAGGGAAAAACCTCGA	0.413												
SH3KBP1	30011	broad.mit.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:19560215delG	uc004czm.2	-	16	2036	c.1720delC	c.(1720-1722)CTGfs	p.L574fs	SH3KBP1_uc011mje.1_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.1_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.2_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.2_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GAGGATGACAGGGGGGAGGGC	0.647												
USP9X	8239	broad.mit.edu	37	X	40982957	40982957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:40982957delC	uc004dfb.2	+	2	709	c.76delC	c.(76-78)CCCfs	p.P26fs	USP9X_uc004dfc.2_Frame_Shift_Del_p.P26fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	26					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ACAGTCTCAGCCCCCCCTCCA	0.428												
TTLL10	254173	broad.mit.edu	37	1	1117760	1117760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:1117759_1117759GT>G	uc001acy.2	+	9	1000	c.849_849GT>G	c.(847-849)gagfs	p.E283fs	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Frame_Shift_Del_p.E283fs|TTLL10_uc001acz.2_Frame_Shift_Del_p.E210fs	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	283	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGAAGAGTTTTTCCCAG	0.622												
PADI3	51702	broad.mit.edu	37	1	17593227	17593227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:17593226_17593226TG>T	uc001bai.3	+	4	461	c.421_421TG>T	c.(421-423)tggfs	p.W141fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	141					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGTGGGTCTGGGGGCCCAG	0.587												
ARID1A	8289	broad.mit.edu	37	1	27106535	27106535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27106534_27106534TG>T	uc001bmv.1	+	19	6518	c.6145_6145TG>T	c.(6145-6147)tggfs	p.W2049fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.W1832fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.W895fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.W377fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.W291fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2049					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.W2048*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTGGAGTGGTGGTGGGACTG	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MAP3K6	9064	broad.mit.edu	37	1	27685239	27685239	+	Frame_Shift_Del	DEL	G	G	-	rs34008139		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27685238_27685238AG>A	uc001bny.1	-	18	2794	c.2545_2545CT>T	c.(2545-2547)ttcfs	p.F849fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.F841fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.F372fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	849	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding	p.F709fs*40(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTCGTGGAAGGGGGGGCGA	0.622												
SDC3	9672	broad.mit.edu	37	1	31347370	31347370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:31347369_31347369GC>G	uc001bse.2	-	3	984	c.937_937GC>C	c.(937-939)cccfs	p.P313fs	SDC3_uc001bsd.2_Frame_Shift_Del_p.P255fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	313						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACTGGGCCCCCCACTC	0.607												
B4GALT2	8704	broad.mit.edu	37	1	44446847	44446847	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44446846_44446846TG>T	uc010okl.2	+	1	177	c.101_101TG>T	c.(100-102)ctgfs	p.L34fs	B4GALT2_uc001clg.3_Frame_Shift_Del_p.L5fs|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Frame_Shift_Del_p.L5fs	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	5					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGCAGACTGCTGGGGGGGACG	0.672												
HFM1	164045	broad.mit.edu	37	1	91727836	91727836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:91727835_91727835TA>T	uc001doa.4	-	37	4300	c.4201_4201TA>A	c.(4201-4203)attfs	p.I1401fs	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Frame_Shift_Del_p.I1080fs|HFM1_uc001dob.4_Frame_Shift_Del_p.I589fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1401							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTGTTTCTAATAAAAAAATCC	0.269												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
COL11A1	1301	broad.mit.edu	37	1	103573669	103573670	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:103573668_103573669C>CG	uc001dum.3	-	0	384_385	c.66_67G>CG	c.(64-69)ctcgcafs	p.L22fs	COL11A1_uc001dul.3_Frame_Shift_Ins_p.L22fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.L22fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.L22fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	22					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L22H(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGGTCAATGCGAGGGTTGTTA	0.550												
FLG	2312	broad.mit.edu	37	1	152286813	152286814	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152286812_152286813C>CT	uc001ezu.1	-	2	585_586	c.549_550G>AG	c.(547-552)aaagagfs	p.K183fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	183					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTTTCTCTTTTTTACTTG	0.312									Ichthyosis			
THBS3	7059	broad.mit.edu	37	1	155172646	155172646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155172645_155172645AG>A	uc001fix.3	-	7	1020	c.915_915CT>T	c.(913-915)cctfs	p.P305fs	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Frame_Shift_Del_p.P185fs|THBS3_uc009wqi.3_Frame_Shift_Del_p.P296fs|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	305	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGCAGGCCAGGGGGGCAGG	0.617												
OR10Z1	128368	broad.mit.edu	37	1	158577073	158577073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158577072_158577072AC>A	uc010pio.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCT	0.458												
CR1L	1379	broad.mit.edu	37	1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207867813_207867813GA>G	uc001hga.4	+	4	700	c.579_579GA>G	c.(577-579)gggfs	p.G193fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	193	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGCAGAGGGAAAAAGGTGT	0.502												
TLR5	7100	broad.mit.edu	37	1	223283951	223283951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223283950_223283950GC>G	uc021pjl.1	-	0	2424	c.2424_2424GC>C	c.(2422-2424)ggcfs	p.G808fs	TLR5_uc001hnv.2_Frame_Shift_Del_p.G808fs|TLR5_uc001hnw.2_Frame_Shift_Del_p.G808fs	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	808	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTGTACAAAGCCTCTGATGG	0.453												
CDC42BPA	8476	broad.mit.edu	37	1	227227917	227227918	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:227227916_227227917C>CA	uc001hqr.3	-	22	3952_3953	c.3009_3010G>TG	c.(3007-3012)tttgtafs	p.F1003fs	CDC42BPA_uc001hqq.3_Frame_Shift_Ins_p.F302fs|CDC42BPA_uc001hqs.3_Frame_Shift_Ins_p.F922fs|CDC42BPA_uc009xes.3_Frame_Shift_Ins_p.F975fs|CDC42BPA_uc010pvs.2_Frame_Shift_Ins_p.F983fs|CDC42BPA_uc001hqp.3_Frame_Shift_Ins_p.F159fs|CDC42BPA_uc001hqu.1_Frame_Shift_Ins_p.F210fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1016					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAAGATTTTACAAAAAACTGGT	0.376												
RBM34	23029	broad.mit.edu	37	1	235323838	235323838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:235323837_235323837CT>C	uc001hwn.3	-	2	585	c.354_354AG>G	c.(352-354)aagfs	p.K118fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Del_p.K118fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	118						nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGTCTGCCAACTTTTTTTCTG	0.343												
SRBD1	55133	broad.mit.edu	37	2	45826841	45826841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45826840_45826840CT>C	uc002rus.3	-	3	472	c.396_396AG>G	c.(394-396)aagfs	p.K132fs		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	132					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CAACTTTCAGCTTTTTAGTCC	0.428												
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C	rs63749866		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
PSME4	23198	broad.mit.edu	37	2	54175584	54175585	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:54175583_54175584GCT>G	uc002rxp.2	-	2	530_531	c.474_475AGC>C	c.(472-477)gagcacfs	p.E158fs	PSME4_uc010yop.1_Frame_Shift_Del_p.E44fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Frame_Shift_Del_p.E158fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	158					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATCCTAGGTGCTCTGTCTTGG	0.351												
PTCD3	55037	broad.mit.edu	37	2	86335645	86335646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:86335644_86335645C>CA	uc002sqw.2	+	2	245_246	c.179_180C>CA	c.(178-180)ccafs	p.P60fs	POLR1A_uc002sqs.3_5'Flank|PTCD3_uc010ytc.1_Non-coding_Transcript	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	60						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GTAGTAATTCCAAAAAAGAAAA	0.332												
BAZ2B	29994	broad.mit.edu	37	2	160289312	160289314	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:160289311_160289313ATCT>A	uc002uao.3	-	8	2260_2262	c.1855_1857AGAT>T	c.(1855-1857)gat>T	p.D619del	BAZ2B_uc002uap.3_In_Frame_Del_p.D617del|BAZ2B_uc002uas.1_In_Frame_Del_p.D556del|BAZ2B_uc002uaq.1_In_Frame_Del_p.D547del|BAZ2B_uc002uar.1_In_Frame_Del_p.D192del	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	619	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						catcttcctcatcttcttcttca	0.330												
PDE11A	50940	broad.mit.edu	37	2	178936667	178936668	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:178936666_178936667T>TG	uc002ulq.3	-	0	816_817	c.498_499A>CA	c.(496-501)cccaccfs	p.P166fs	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	166					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P165L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGGCTGTGGTGGGGGGCAGGG	0.564									Primary Pigmented Nodular Adrenocortical Disease, Familial			
GPR1	2825	broad.mit.edu	37	2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:207041591_207041591GA>G	uc021vvl.1	-	0	381	c.381_381TC>C	c.(379-381)ttcfs	p.F127fs	GPR1_uc002vbl.4_Frame_Shift_Del_p.F127fs|GPR1_uc010fue.3_Frame_Shift_Del_p.F127fs|GPR1_uc010fuf.3_Frame_Shift_Del_p.F127fs	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACAC	0.458												
EFHD1	80303	broad.mit.edu	37	2	233527580	233527580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:233527579_233527579GC>G	uc002vtc.3	+	1	578	c.370_370GC>G	c.(370-372)gccfs	p.A124fs	EFHD1_uc010fyf.3_Frame_Shift_Del_p.A28fs|EFHD1_uc002vtd.3_Frame_Shift_Del_p.A12fs	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	124	EF-hand 1.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602												
PASK	23178	broad.mit.edu	37	2	242062279	242062279	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242062278_242062278TG>T	uc002wao.2	-	11	3074	c.2941_2941CA>A	c.(2941-2943)aagfs	p.K981fs	PASK_uc010zol.2_Frame_Shift_Del_p.K795fs|PASK_uc010zom.2_Frame_Shift_Del_p.K946fs|PASK_uc010fzl.2_Frame_Shift_Del_p.K981fs|PASK_uc010zon.2_Frame_Shift_Del_p.K762fs|PASK_uc021vzf.1_Frame_Shift_Del_p.K981fs|PASK_uc002wap.3_Frame_Shift_Del_p.K524fs|PASK_uc002waq.3_Frame_Shift_Del_p.K981fs	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	981					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCACAGCCTTGGGGGGCTCC	0.622												
ANO7	50636	broad.mit.edu	37	2	242139594	242139594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242139593_242139593AC>A	uc002wax.2	+	5	772	c.669_669AC>A	c.(667-669)gtafs	p.V223fs		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	223						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGCCAGACGTACCCCCCGAGT	0.622												
LRRFIP2	9209	broad.mit.edu	37	3	37114286	37114286	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:37114285_37114285AT>A	uc003cgp.2	-	21	1883	c.1460_1460AT>T	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Del_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCATACCCCAATTTTTTTATC	0.398												
CACNA2D2	9254	broad.mit.edu	37	3	50404836	50404836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:50404835_50404835TG>T	uc003daq.3	-	27	2450	c.2412_2412CA>A	c.(2410-2412)ccafs	p.P804fs	CACNA2D2_uc003dap.3_Frame_Shift_Del_p.P797fs	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	804					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATCCTGGTGTGGGGGCTTGA	0.622												
RAD54L2	23132	broad.mit.edu	37	3	51696644	51696645	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:51696643_51696644G>GC	uc011bdt.2	+	21	3736_3737	c.3611_3612G>GC	c.(3610-3612)ggcfs	p.G1204fs	RAD54L2_uc003dbh.3_Frame_Shift_Ins_p.G793fs|RAD54L2_uc011bdu.2_Frame_Shift_Ins_p.G898fs|RAD54L2_uc003dbj.3_Frame_Shift_Ins_p.G530fs	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1204						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCTGCCTGGCCCCCCGGCCC	0.604												
GOLGB1	2804	broad.mit.edu	37	3	121410277	121410279	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:121410276_121410278CTCT>C	uc010hrc.3	-	13	8059_8061	c.7933_7935AGAG>G	c.(7933-7935)gag>G	p.E2645del	GOLGB1_uc003eei.4_In_Frame_Del_p.E2640del|GOLGB1_uc003eej.4_In_Frame_Del_p.E2606del|GOLGB1_uc021xcy.1_In_Frame_Del_p.E2565del	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2640					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACCTGTGTACCTCTTCTTCTTTT	0.389												
RASA2	5922	broad.mit.edu	37	3	141326548	141326548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:141326547_141326547TA>T	uc010huq.1	+	20	1973	c.1973_1973TA>T	c.(1972-1974)gtafs	p.V658fs	RASA2_uc003etz.1_Frame_Shift_Del_p.V654fs|RASA2_uc003eua.1_Frame_Shift_Del_p.V655fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	654	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAATCCCAGTAAAAAACATT	0.274												
PLCH1	23007	broad.mit.edu	37	3	155198938	155198938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:155198937_155198937GT>G	uc021xge.1	-	22	5179	c.4902_4902AC>C	c.(4900-4902)tacfs	p.Y1634fs	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Frame_Shift_Del_p.Y1596fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1634					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCCTGCGATGTAGGAGCCGG	0.587												
TTC14	151613	broad.mit.edu	37	3	180320725	180320726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:180320724_180320725C>CA	uc003fkk.3	+	1	339_340	c.207_208C>CA	c.(205-210)tccaaafs	p.S69fs	TTC14_uc003fkl.3_Frame_Shift_Ins_p.S69fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.S69fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	69							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATTCATCTCCAAAAAAGCGGA	0.342												
CC2D2A	57545	broad.mit.edu	37	4	15601259	15601260	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:15601258_15601259G>GA	uc010idv.2	+	36	4848_4849	c.4603_4604G>GA	c.(4603-4605)gaafs	p.E1535fs	CC2D2A_uc003gnx.3_Frame_Shift_Ins_p.E1427fs|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1535					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCCTCTGTTAGAAAAAAGTCAA	0.426												
MARCH6	10299	broad.mit.edu	37	5	10415634	10415634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:10415633_10415633CG>C	uc003jet.1	+	20	2183	c.2000_2000CG>C	c.(1999-2001)acgfs	p.T667fs	MARCH6_uc011cmu.1_Frame_Shift_Del_p.T619fs|MARCH6_uc003jeu.1_Frame_Shift_Del_p.T365fs|MARCH6_uc011cmv.1_Frame_Shift_Del_p.T562fs	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	667					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.T667M(2)|p.T667T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCGTTTTGGACGGGGACTGCC	0.453												
APC	324	broad.mit.edu	37	5	112175651	112175652	+	Frame_Shift_Ins	INS	-	-	A	rs111866410	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112175650_112175651T>TA	uc003kpz.4	+	16	4552_4553	c.4359_4360T>TA	c.(4357-4362)cctaaafs	p.P1453fs	APC_uc011cvt.2_Frame_Shift_Ins_p.P1435fs|APC_uc003kpy.4_Frame_Shift_Ins_p.P1453fs|APC_uc010jbz.3_Frame_Shift_Ins_p.P1170fs|APC_uc010jca.3_Frame_Shift_Ins_p.P753fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1453	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1454E(8)|p.P1453fs*20(5)|p.P1453fs*4(2)|p.K1454fs*20(2)|p.P1453fs*19(2)|p.P1453S(1)|p.K1454fs*3(1)|p.?(1)|p.P1424fs*19(1)|p.P1453?(1)|p.K1192fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAAGTACCTAAAAATAAAGC	0.480		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
PCDHGC5	56097	broad.mit.edu	37	5	140857132	140857132	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140857131_140857131AC>A	uc003lkv.2	+	0	1563	c.1448_1448AC>A	c.(1447-1449)gacfs	p.D483fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.D483fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTCTGGGACCCCGACGCC	0.483												
PCDH12	51294	broad.mit.edu	37	5	141336951	141336951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:141336950_141336950AG>A	uc003llx.3	-	0	1678	c.467_467CT>T	c.(466-468)ctgfs	p.L156fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	156	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGTCCAGGGGGATCCG	0.572												
TIGD6	81789	broad.mit.edu	37	5	149375358	149375358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149375357_149375357GA>G	uc003lri.3	-	1	1317	c.555_555TC>C	c.(553-555)ttcfs	p.F185fs	TIGD6_uc003lrj.3_Frame_Shift_Del_p.F185fs|TIGD6_uc021yft.1_Frame_Shift_Del_p.F185fs	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	185	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAGCAACTGGAAAAACACTC	0.448												
ZNF300	91975	broad.mit.edu	37	5	150275714	150275716	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:150275713_150275715GAGA>G	uc021yfx.1	-	6	1562_1564	c.1134_1136TCTC>C	c.(1132-1137)ttctcc>ttCc	p.S379del	ZNF300_uc021yfy.1_In_Frame_Del_p.S363del|ZNF300_uc021yfz.1_In_Frame_Del_p.S327del	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATTTCTGGGAGAAGGCTTTCC	0.438												
GPSM3	63940	broad.mit.edu	37	6	32160020	32160020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32160019_32160019AG>A	uc003oay.4	-	1	453	c.51_51CT>T	c.(49-51)cctfs	p.P17fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Del_p.P17fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	17	Pro-rich.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTCATCCTGAGGGGGGCCCT	0.622												
TBC1D22B	55633	broad.mit.edu	37	6	37250059	37250059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:37250058_37250058TG>T	uc003onn.3	+	3	665	c.519_519TG>T	c.(517-519)tctfs	p.S173fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	173						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGAACGCTTCTGGGGCCCCCC	0.572												
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		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)		TCATTTTTGTCAAAAAAAAGGT	0.356												
MDN1	23195	broad.mit.edu	37	6	90450058	90450058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90450057_90450057CT>C	uc003pnn.1	-	31	4605	c.4489_4489AG>G	c.(4489-4491)ggcfs	p.G1497fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1497					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		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)		TCTGGACTGCCTTTTTCAGCT	0.378												
LAMA4	3910	broad.mit.edu	37	6	112462098	112462098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:112462097_112462097TA>T	uc003pvu.2	-	21	3150	c.2841_2841TA>A	c.(2839-2841)ttafs	p.L947fs	LAMA4_uc003pvv.2_Frame_Shift_Del_p.L940fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.L940fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	947	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			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		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)		TCGGGACTGTTAAAAACACCT	0.363												
MYB	4602	broad.mit.edu	37	6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma							
PMS2	5395	broad.mit.edu	37	7	6027157	6027158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:6027156_6027157C>CT	uc003spl.3	-	10	1326_1327	c.1239_1240G>AG	c.(1237-1242)aaagacfs	p.K413fs	PMS2_uc003spj.3_Frame_Shift_Ins_p.K307fs|PMS2_uc003spk.3_Frame_Shift_Ins_p.K278fs|PMS2_uc011jwl.2_Frame_Shift_Ins_p.K278fs|PMS2_uc010ktg.3_Frame_Shift_Ins_p.K102fs|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Frame_Shift_Ins_p.K413fs	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	413					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.D414fs*34(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGACACGTCTTTTTTTTCTT	0.455			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
DTX2	113878	broad.mit.edu	37	7	76112320	76112320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:76112319_76112319GC>G	uc011kgk.1	+	2	842	c.490_490GC>G	c.(490-492)gccfs	p.A164fs	DTX2_uc003uff.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.A255fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	255	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACTCTCCGGGGCCCGGTCTGC	0.682												
KIAA1324L	222223	broad.mit.edu	37	7	86556159	86556159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:86556158_86556158AG>A	uc011kha.2	-	8	1349	c.1164_1164CT>T	c.(1162-1164)cctfs	p.P388fs	KIAA1324L_uc003uie.3_Frame_Shift_Del_p.P221fs|KIAA1324L_uc011kgz.2_Frame_Shift_Del_p.P274fs|KIAA1324L_uc003uif.2_Frame_Shift_Del_p.P140fs	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	388						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCTCCAGAAGGGGGCAATC	0.413												
CROT	54677	broad.mit.edu	37	7	87011774	87011774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87011773_87011773CA>C	uc003uiu.3	+	13	1544	c.1299_1299CA>C	c.(1297-1299)ggcfs	p.G433fs	CROT_uc003uit.3_Frame_Shift_Del_p.G405fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	405					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CATCTTTTGGCAAAAAGCTAA	0.408												
ABCB1	5243	broad.mit.edu	37	7	87165829	87165829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87165828_87165828GT>G	uc003uiz.2	-	20	2920	c.2427_2427AC>C	c.(2425-2427)aacfs	p.N809fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.N745fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	809	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	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)	CTCCAGTGGTGTTTTTAGGGT	0.448												
ADAM22	53616	broad.mit.edu	37	7	87810888	87810888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87810887_87810887GA>G	uc003ujn.3	+	27	2691	c.2476_2476GA>G	c.(2476-2478)gaafs	p.E826fs	ADAM22_uc003ujk.2_Frame_Shift_Del_p.E826fs|ADAM22_uc003ujl.2_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujm.3_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujo.3_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujp.1_Frame_Shift_Del_p.E878fs	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	826					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATCTGTGAAAATGGGCG	0.403												
GPC2	221914	broad.mit.edu	37	7	99771469	99771469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:99771468_99771468GC>G	uc003utv.3	-	4	1050	c.882_882GC>C	c.(880-882)ggcfs	p.G294fs	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	294						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGATAGTTGCCCCAGTCAG	0.602												
C7orf49	78996	broad.mit.edu	37	7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592												
AGAP3	116988	broad.mit.edu	37	7	150783997	150783998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:150783996_150783997G>GC	uc003wjg.1	+	0	171_172	c.168_169G>GC	c.(166-171)gggcccfs	p.G56fs	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Frame_Shift_Ins_p.G56fs|AGAP3_uc010lpy.1_Frame_Shift_Ins_p.G56fs	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	20					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGCCGGCGGGCCCCCCCAGCA	0.752												
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:38205091_38205091CT>C	uc003xli.3	-	1	1117	c.599_599AG>G	c.(598-600)agcfs	p.S200fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.S200fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.S200fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.S200fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	200					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATGCTTGTTGCTTTTTTTCCT	0.378			T	NUP98	AML							
SGK3	23678	broad.mit.edu	37	8	67716612	67716612	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aaattttagttaaaaaaaCAG	0.299												
PREX2	80243	broad.mit.edu	37	8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332												
CA1	759	broad.mit.edu	37	8	86250524	86250525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:86250523_86250524G>GC	uc022axc.1	-	1	271_272	c.192_193C>GC	c.(190-195)gggcatfs	p.G64fs	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Frame_Shift_Ins_p.G64fs|CA1_uc022axd.1_Frame_Shift_Ins_p.G64fs|CA1_uc010mae.2_Frame_Shift_Ins_p.G64fs|CA1_uc003ydi.3_Frame_Shift_Ins_p.G64fs	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	64					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGAAGGAATGCCCCACATTGA	0.386												
VPS13B	157680	broad.mit.edu	37	8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACCATTCACTTTTTTAAGT	0.269												
UBR5	51366	broad.mit.edu	37	8	103289349	103289350	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103289348_103289349C>CT	uc003ykr.2	-	44	6815_6816	c.6360_6361G>AG	c.(6358-6363)aaagaafs	p.K2120fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(4)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381												
FZD6	8323	broad.mit.edu	37	8	104337204	104337204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104337203_104337203AT>A	uc003ylh.3	+	3	1159	c.869_869AT>A	c.(868-870)tatfs	p.Y290fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.Y258fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.Y290fs|FZD6_uc011lho.2_Intron|FZD6_uc011lhp.2_Frame_Shift_Del_p.Y235fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	290					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.Y290H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATGCTTTTGTATTTTTTCACA	0.438												
ZFPM2	23414	broad.mit.edu	37	8	106573666	106573666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:106573665_106573665TG>T	uc003ymd.3	+	3	399	c.376_376TG>T	c.(376-378)tggfs	p.W126fs		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	126					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.W126L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAACAACCTGGGGGCCGTT	0.433												
SLC45A4	57210	broad.mit.edu	37	8	142222546	142222546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142222545_142222545GC>G	uc003ywd.1	-	6	2207	c.1899_1899GC>C	c.(1897-1899)ggcfs	p.G633fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.G633fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.G631fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	684					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	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)			CGTCGACCACGCCCCCAAGGG	0.617												
ZC3H3	23144	broad.mit.edu	37	8	144620691	144620691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:144620690_144620690CG>C	uc003yyd.2	-	1	876	c.847_847CG>G	c.(847-849)gccfs	p.A283fs		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	283					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGGTCTGGCGGGGCCCCCC	0.617												
MELK	9833	broad.mit.edu	37	9	36583695	36583695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:36583694_36583694TA>T	uc003zzn.3	+	2	267	c.129_129TA>T	c.(127-129)gatfs	p.D43fs	MELK_uc022bgq.1_Intron|MELK_uc011lpm.2_Intron|MELK_uc011lpn.2_Frame_Shift_Del_p.D43fs|MELK_uc011lpo.2_Intron|MELK_uc010mll.3_Intron|MELK_uc011lpp.2_Frame_Shift_Del_p.D43fs|MELK_uc010mlm.3_Intron|MELK_uc011lpr.2_Frame_Shift_Del_p.D43fs|MELK_uc011lpq.2_Intron|MELK_uc011lps.2_Intron	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	43	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAATCATGGATAAAAACACAC	0.328												
MAMDC4	158056	broad.mit.edu	37	9	139752000	139752000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139751999_139751999TG>T	uc004cjs.3	+	17	2337	c.2287_2287TG>T	c.(2287-2289)tggfs	p.W763fs	MAMDC4_uc011mej.2_Frame_Shift_Del_p.W100fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	842	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	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)		CCATGCTGCCTGGGGCCCCCC	0.657												
OPTN	10133	broad.mit.edu	37	10	13168010	13168010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:13168009_13168009GA>G	uc001ilu.1	+	11	1650	c.1212_1212GA>G	c.(1210-1212)ttgfs	p.L404fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ily.1_Frame_Shift_Del_p.L398fs|OPTN_uc010qbr.1_Frame_Shift_Del_p.L347fs	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	404					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.A403S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAATGCATTGAAAACAATTG	0.308												
PTER	9317	broad.mit.edu	37	10	16526567	16526567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:16526566_16526566GA>G	uc001iog.1	+	2	390	c.183_183GA>G	c.(181-183)cagfs	p.Q61fs	PTER_uc001ioh.1_Frame_Shift_Del_p.Q61fs|PTER_uc001ioi.1_Frame_Shift_Del_p.Q61fs|PTER_uc009xjp.1_Frame_Shift_Del_p.Q61fs	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	61					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATTGGATTCAGAAAAACGCCT	0.413												
KIAA1217	56243	broad.mit.edu	37	10	24508692	24508692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:24508691_24508691AG>A	uc001iru.4	+	1	610	c.207_207AG>A	c.(205-207)ctafs	p.L69fs	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Frame_Shift_Del_p.L69fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.L69fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.L69fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	69					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GACACACCCTAGGGGGGCCCC	0.502												
ZEB1	6935	broad.mit.edu	37	10	31815887	31815888	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31815886_31815887CGA>C	uc001ivs.4	+	8	3132_3133	c.3069_3070CGA>C	c.(3067-3072)gacgagfs	p.D1023fs	ZEB1_uc001ivr.4_Frame_Shift_Del_p.D805fs|ZEB1_uc010qef.2_Frame_Shift_Del_p.D805fs|ZEB1_uc001ivu.4_Frame_Shift_Del_p.D1024fs|ZEB1_uc010qeh.2_Frame_Shift_Del_p.D956fs|ZEB1_uc001ivv.4_Frame_Shift_Del_p.D1003fs|ZEB1_uc001ivt.4_Frame_Shift_Del_p.D805fs|ZEB1_uc009xlo.2_Frame_Shift_Del_p.D1006fs|ZEB1_uc009xlp.3_Frame_Shift_Del_p.D1007fs	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1023	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.S1022*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCGACTCGGACGAGAGAGAGAG	0.520												
TET1	80312	broad.mit.edu	37	10	70332676	70332677	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:70332675_70332676C>CA	uc001jok.4	+	1	1085_1086	c.580_581C>CA	c.(580-582)caafs	p.Q194fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	194					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTTTGGTCCCAAAGAGTTGAG	0.480												
PRF1	5551	broad.mit.edu	37	10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:72358048_72358048GC>G	uc009xqg.3	-	2	1590	c.1429_1429GC>C	c.(1429-1431)cccfs	p.P477fs	PRF1_uc001jrf.4_Frame_Shift_Del_p.P477fs	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	477	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G476R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AACCTCAGGGGCCCCCCTGTG	0.607			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis			
ASCC1	51008	broad.mit.edu	37	10	73970504	73970504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73970503_73970503TG>T	uc001jst.2	-	2	467	c.199_199CA>A	c.(199-201)agcfs	p.S67fs	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jss.2_Frame_Shift_Del_p.S67fs|ASCC1_uc021pso.1_Frame_Shift_Del_p.S67fs|ASCC1_uc001jsu.2_Frame_Shift_Del_p.S67fs|ASCC1_uc010qju.2_Frame_Shift_Del_p.S88fs	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TAGAGCAAGCTGGGGGCCCTC	0.532												
ZMIZ1	57178	broad.mit.edu	37	10	81037036	81037036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:81037035_81037035GC>G	uc001kaf.2	+	7	950	c.378_378GC>G	c.(376-378)cagfs	p.Q126fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.Q2fs|ZMIZ1_uc001kah.1_Frame_Shift_Del_p.Q2fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	126					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCCCATGCAGCCCCCTCTCA	0.622												
PAX2	5076	broad.mit.edu	37	10	102509529	102509530	+	Frame_Shift_Ins	INS	-	-	G	rs75462234		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102509528_102509529C>CG	uc001krk.4	+	1	619_620	c.69_70C>CG	c.(67-72)ctcgggfs	p.L23fs	PAX2_uc001krm.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krn.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001kro.4_Frame_Shift_Ins_p.L23fs|PAX2_uc010qps.2_Frame_Shift_Ins_p.L22fs|PAX2_uc001krl.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krp.1_Frame_Shift_Ins_p.L27fs	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663												
ACSL5	51703	broad.mit.edu	37	10	114136195	114136196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:114136194_114136195G>GC	uc001kzu.3	+	0	239_240	c.127_128G>GC	c.(127-129)gccfs	p.A43fs	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAGAGATGCGGCCCCCTCGCAG	0.609												
HBB	3043	broad.mit.edu	37	11	5248202	5248202	+	Frame_Shift_Del	DEL	C	C	-	rs35662066		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5248201_5248201GC>G	uc001mae.1	-	0	101	c.51_51GC>C	c.(49-51)ggcfs	p.G17fs	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	17			G -> D (in J-Baltimore/J-Trinidad/J- Ireland/J-Georgia/N-New Haven).|G -> R (in D-Bushman).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CGTTCACCTTGCCCCACAGGG	0.507									Sickle Cell Trait			
ADM	133	broad.mit.edu	37	11	10328154	10328155	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10328153_10328154G>GC	uc001mil.1	+	3	679_680	c.523_524G>GC	c.(523-525)gccfs	p.A175fs		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	175					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	p.S178fs*>9(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CGGGGCTCCAGCCCCCCCGAGT	0.678												
RNF141	50862	broad.mit.edu	37	11	10546849	10546850	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10546848_10546849CTT>C	uc001mis.1	-	3	477_478	c.324_325AAG>G	c.(322-327)aaagatfs	p.K108fs	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	108							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CTTGTGATATCTTTATAAAGTT	0.376												
FAM111A	63901	broad.mit.edu	37	11	58920651	58920652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:58920650_58920651T>TA	uc010rkp.2	+	4	1736_1737	c.1509_1510T>TA	c.(1507-1512)tctaaafs	p.S503fs	FAM111A_uc010rkq.2_Frame_Shift_Ins_p.S503fs|FAM111A_uc010rkr.2_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nno.3_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nnp.3_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nnq.3_Frame_Shift_Ins_p.S503fs	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	503					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GTGTTCAGTCTAAAAAAGCAGA	0.386												
FIBP	9158	broad.mit.edu	37	11	65653077	65653077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:65653076_65653076GT>G	uc001ogd.3	-	4	692	c.571_571AC>C	c.(571-573)ctgfs	p.L191fs	FIBP_uc001oge.3_Frame_Shift_Del_p.L191fs	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	191					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		AGATACTGCAGTTTTTTCTTC	0.542											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYT12	91683	broad.mit.edu	37	11	66802126	66802126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66802125_66802125GC>G	uc009yrl.3	+	2	274	c.44_44GC>G	c.(43-45)agcfs	p.S15fs	SYT12_uc001oju.3_Frame_Shift_Del_p.S15fs	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	15						cell junction|integral to membrane|synaptic vesicle membrane		p.K14N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GTCATCAAGAGCCCCCCTGGC	0.612												
PITPNM1	9600	broad.mit.edu	37	11	67267649	67267649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67267648_67267648TG>T	uc001olx.3	-	4	1074	c.885_885CA>A	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCT	0.692												
MYO7A	4647	broad.mit.edu	37	11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564												
C11orf70	85016	broad.mit.edu	37	11	101937275	101937275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:101937274_101937274AT>A	uc001pgp.3	+	3	360	c.327_327AT>A	c.(325-327)tcafs	p.S109fs	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Frame_Shift_Del_p.S71fs	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	109										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTCAATGTCATTTTTTCATC	0.289												
CXCR5	643	broad.mit.edu	37	11	118764379	118764379	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118764378_118764378AG>A	uc001pue.4	+	1	301	c.125_125AG>A	c.(124-126)gagfs	p.E42fs	CXCR5_uc001puf.3_5'UTR	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	42					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTGCCACAGAGGGGCCCCTC	0.597												
BCL9L	283149	broad.mit.edu	37	11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118772973_118772973CG>C	uc001pug.3	-	5	2444	c.1479_1479CG>G	c.(1477-1479)ccgfs	p.P493fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P488fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	493	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				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			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	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)		TGTCCCCACCCGGGGGGTGCC	0.622												
TECTA	7007	broad.mit.edu	37	11	120996203	120996203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120996202_120996202TA>T	uc010rzo.2	+	6	1395	c.1395_1395TA>T	c.(1393-1395)aatfs	p.N465fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	465	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACTATAATAAAAACCCAC	0.532												
IFFO1	25900	broad.mit.edu	37	12	6657974	6657975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6657973_6657974G>GC	uc010sfe.2	-	5	1176_1177	c.1122_1123C>GC	c.(1120-1125)gggcggfs	p.G374fs	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_Frame_Shift_Ins_p.G3fs|IFFO1_uc001qpa.2_Frame_Shift_Ins_p.G3fs|IFFO1_uc001qpb.1_Frame_Shift_Ins_p.G40fs|IFFO1_uc001qpc.2_Frame_Shift_Ins_p.G366fs|IFFO1_uc001qpf.2_Frame_Shift_Ins_p.G366fs|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_Frame_Shift_Ins_p.G3fs	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	363						intermediate filament		p.R364fs*19(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCGCTTCCGCCCCCCCATGG	0.673												
C1S	716	broad.mit.edu	37	12	7177939	7177939	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:7177938_7177938AC>A	uc001qsj.3	+	14	2769	c.2050_2050AC>A	c.(2050-2052)accfs	p.T684fs	C1S_uc001qsk.3_Frame_Shift_Del_p.T684fs|C1S_uc001qsl.3_Frame_Shift_Del_p.T684fs|C1S_uc009zfr.3_Frame_Shift_Del_p.T517fs|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGA	0.493												
MFAP5	8076	broad.mit.edu	37	12	8804269	8804270	+	Frame_Shift_Ins	INS	-	-	T	rs139330366		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8804268_8804269A>AT	uc001qut.1	-	6	449_450	c.236_237T>AT	c.(235-237)aatfs	p.N79fs	MFAP5_uc001qus.2_Intron|MFAP5_uc009zge.1_Intron	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	79						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTGCAGTGGTATTTTTTTCACT	0.426												
TAS2R10	50839	broad.mit.edu	37	12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATAC	0.343												
SLCO1C1	53919	broad.mit.edu	37	12	20885884	20885884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:20885883_20885883TG>T	uc010sii.2	+	10	1582	c.1227_1227TG>T	c.(1225-1227)tctfs	p.S409fs	SLCO1C1_uc010sij.2_Frame_Shift_Del_p.S360fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.S243fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.S409fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.S291fs	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	409					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAATATTCTCTGGGGGGATAG	0.383												
ALG10	84920	broad.mit.edu	37	12	34178860	34178860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:34178859_34178859AT>A	uc001rlm.3	+	2	750	c.431_431AT>A	c.(430-432)tatfs	p.Y144fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	144					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCAACACTTTATTTTTTTAAC	0.328												
SLC2A13	114134	broad.mit.edu	37	12	40223908	40223908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40223907_40223907GC>G	uc010skm.2	-	6	1494	c.1443_1443GC>C	c.(1441-1443)ggcfs	p.G481fs	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Frame_Shift_Del_p.G128fs	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	481						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TGATATACCTGCCCCAGGCTG	0.373										HNSCC(50;0.14)		
KRT6B	3854	broad.mit.edu	37	12	52845468	52845468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52845467_52845467AG>A	uc001sak.3	-	0	444	c.396_396CT>T	c.(394-396)cctfs	p.P132fs		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	132	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGATGCCTCCAGGGGGGCACA	0.642												
PAN2	9924	broad.mit.edu	37	12	56712865	56712876	+	Splice_Site	DEL	AACTCACCCAGA	AACTCACCCAGA	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56712864_56712875CAACTCACCCAGA>C	uc001skx.3	-	24	3753	c.3376_splice	c.e24+1	p.D1126_splice	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Splice_Site_p.D274_splice|PAN2_uc001sky.3_Splice_Site_p.D1122_splice|PAN2_uc001skz.3_Splice_Site_p.D1125_splice	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1126	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAAGGCAGAGCAACTCACCCAGAAAGTACCAA	0.481												
TIMELESS	8914	broad.mit.edu	37	12	56815562	56815562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56815561_56815561TC>T	uc001slf.2	-	21	2843	c.2675_2675GA>A	c.(2674-2676)gatfs	p.D892fs		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	892					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAACTCCTGATCCCCCGTCCA	0.517												
SHMT2	6472	broad.mit.edu	37	12	57627083	57627083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:57627082_57627082GC>G	uc001snf.2	+	7	1183	c.977_977GC>G	c.(976-978)ggcfs	p.G326fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.G328fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.G316fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.G222fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.G305fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.G335fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.G305fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.G230fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.G305fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.G230fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	326						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGCAGGGGGGCCCCCACAAT	0.587												
MBD6	114785	broad.mit.edu	37	12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:57920933_57920933GC>G	uc001soj.1	+	6	2229	c.2005_2005GC>G	c.(2005-2007)gccfs	p.A669fs	MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	669	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCACTTTCAGCCCCCCCTAC	0.637												
IRAK3	11213	broad.mit.edu	37	12	66610954	66610955	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:66610953_66610954G>GA	uc001sth.3	+	5	693_694	c.591_592G>GA	c.(589-594)gagaaafs	p.E197fs	IRAK3_uc010ssy.2_Frame_Shift_Ins_p.E136fs	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	197	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATATGTAGGAGAAAAAAATGCA	0.361												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895373		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662												
HNF1A	6927	broad.mit.edu	37	12	121434361	121434361	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121434360_121434360GC>G	uc001tzg.3	+	5	1147	c.1124_1124GC>G	c.(1123-1125)ggcfs	p.G375fs	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Frame_Shift_Del_p.G375fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.G375fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.G375fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.G375fs|HNF1A_uc021rfb.1_Frame_Shift_Del_p.G247fs|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	375					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCTGGGGGCCCCCTCCCC	0.657									Hepatic Adenoma, Familial Clustering of			
B3GNT4	79369	broad.mit.edu	37	12	122691422	122691422	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:122691421_122691421GC>G	uc001ubx.3	+	2	841	c.623_623GC>G	c.(622-624)tgcfs	p.C208fs	B3GNT4_uc001uby.3_Frame_Shift_Del_p.C183fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	208					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GTGGCTGCCTGCCCCCAGGCC	0.577												
VPS37B	79720	broad.mit.edu	37	12	123351956	123351956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123351955_123351955AG>A	uc001udl.3	-	3	669	c.566_566CT>T	c.(565-567)cttfs	p.L189fs		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	189	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		AGGGTAGGGAAGGGGGGCGGT	0.716												
WASF3	10810	broad.mit.edu	37	13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C	rs141429361		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678												
PDS5B	23047	broad.mit.edu	37	13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:33226029_33226029AT>A	uc010abf.3	+	2	383	c.197_197AT>A	c.(196-198)gatfs	p.D66fs	PDS5B_uc001uun.3_Frame_Shift_Del_p.D66fs|PDS5B_uc001uuo.3_Frame_Shift_Del_p.D66fs|PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	66					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGCTTCAGATTTTTTTCTC	0.378												
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGC	0.338												
RNF219	79596	broad.mit.edu	37	13	79190057	79190057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:79190056_79190056GA>G	uc001vkw.1	-	5	1899	c.1840_1840TC>C	c.(1840-1842)ctcfs	p.L614fs	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Frame_Shift_Del_p.L424fs	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	614	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGAGAGGAGAAAAAAAGAA	0.368												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20389293_20389294C>CT	uc010tkw.2	+	0	528_529	c.528_529C>CT	c.(526-531)agctttfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTGA	0.421												
REM2	161253	broad.mit.edu	37	14	23355275	23355275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23355274_23355274CG>C	uc001whf.1	+	3	626	c.561_561CG>C	c.(559-561)accfs	p.T187fs	REM2_uc010tnd.1_Frame_Shift_Del_p.R155fs	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	187					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	p.T177T(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCCTTCAGACCGGGGACGCCT	0.622												
IPO4	79711	broad.mit.edu	37	14	24655356	24655356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24655355_24655355CG>C	uc001wmv.1	-	10	2060	c.1039_1039CG>G	c.(1039-1041)gagfs	p.E347fs	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Frame_Shift_Del_p.E9fs|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Frame_Shift_Del_p.E211fs|IPO4_uc001wmy.1_Frame_Shift_Del_p.E211fs|IPO4_uc001wmz.2_Frame_Shift_Del_p.E347fs	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	347					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTTCTCGGGGGGCAGG	0.587												
C14orf43	91748	broad.mit.edu	37	14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667												
PAPOLA	10914	broad.mit.edu	37	14	96986535	96986535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:96986534_96986534GT>G	uc001yfq.3	+	1	368	c.151_151GT>G	c.(151-153)gttfs	p.V51fs	PAPOLA_uc001yfp.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc001yfo.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc001yfr.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc010twv.2_Frame_Shift_Del_p.V51fs|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383												
CRIP1	1396	broad.mit.edu	37	14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105954582_105954582TG>T	uc001yri.4	+	2	234	c.120_120TG>T	c.(118-120)tctfs	p.S40fs	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	40	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		CGCTGACCTCTGGGGGCCACG	0.657												
MAGEL2	54551	broad.mit.edu	37	15	23890303	23890303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:23890302_23890302TG>T	uc001ywj.4	-	0	2692	c.2588_2588CA>A	c.(2587-2589)cagfs	p.Q863fs		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCAGTTGCCTGGGGGGCAGC	0.632												
SLTM	79811	broad.mit.edu	37	15	59182636	59182637	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:59182635_59182636GCT>G	uc002afp.3	-	14	2011_2012	c.1923_1924AGC>C	c.(1921-1926)gagcgtfs	p.E641fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E183fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E623fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E210fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E210fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	641	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCTCTCGACGCTCTCTCTCTG	0.396												
ITGA11	22801	broad.mit.edu	37	15	68596150	68596150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68596149_68596149GC>G	uc010bib.3	-	28	3546	c.3459_3459GC>C	c.(3457-3459)ggcfs	p.G1153fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.G1152fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	1152	Poly-Leu.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGTAGGAGGCCCCCCAGGG	0.657												
UACA	55075	broad.mit.edu	37	15	70959979	70959979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:70959978_70959978CT>C	uc002asr.3	-	15	3149	c.3045_3045AG>G	c.(3043-3045)aagfs	p.K1015fs	UACA_uc010uke.2_Frame_Shift_Del_p.K906fs|UACA_uc002asq.3_Frame_Shift_Del_p.K1002fs|UACA_uc010bin.1_Frame_Shift_Del_p.K990fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1015						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGACACTATACTTTTGTGTCT	0.368												
IGF1R	3480	broad.mit.edu	37	15	99500618	99500618	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:99500617_99500617CG>C	uc002bul.3	+	20	4100	c.4050_4050CG>C	c.(4048-4050)aacfs	p.N1350fs	IGF1R_uc010bon.3_Frame_Shift_Del_p.N1349fs	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1350					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCACATGAACGGGGGCCGCA	0.647												
NARFL	64428	broad.mit.edu	37	16	789708	789708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:789707_789707CT>C	uc002cjr.3	-	1	110	c.98_98AG>G	c.(97-99)aggfs	p.R33fs	NARFL_uc002cjp.3_5'Flank|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Frame_Shift_Del_p.R33fs|NARFL_uc010uur.1_Frame_Shift_Del_p.R33fs	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	33					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACTTCCCGCCCTTTTTTCCAC	0.562												
ALG1	56052	broad.mit.edu	37	16	5134879	5134880	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:5134878_5134879CAT>C	uc002cym.3	+	12	1432_1433	c.1391_1392CAT>C	c.(1390-1392)acafs	p.T464fs	ALG1_uc002cyj.3_Frame_Shift_Del_p.T353fs|ALG1_uc010bue.3_Frame_Shift_Del_p.T353fs|FAM86A_uc002cyo.2_3'UTR|FAM86A_uc002cyp.2_3'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	464					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.D463N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GTTATGGACACATAACTCCTGG	0.589												
MKL2	57496	broad.mit.edu	37	16	14346300	14346301	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:14346299_14346300T>TC	uc010uza.2	+	14	2798_2799	c.2643_2644T>TC	c.(2641-2646)gatcccfs	p.D881fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.D831fs|MKL2_uc002dcj.3_Frame_Shift_Ins_p.D126fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	870					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564												
POLR3E	55718	broad.mit.edu	37	16	22339834	22339835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:22339833_22339834T>TC	uc002dkk.3	+	18	2025_2026	c.1869_1870T>TC	c.(1867-1872)tttcccfs	p.F623fs	POLR3E_uc002dkj.1_3'UTR|POLR3E_uc002dkm.3_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbr.2_Frame_Shift_Ins_p.F623fs|POLR3E_uc002dkl.3_Frame_Shift_Ins_p.F623fs|POLR3E_uc010vbs.2_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbt.2_Frame_Shift_Ins_p.F567fs	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574												
GPR114	221188	broad.mit.edu	37	16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57600565_57600565TG>T	uc002ely.3	+	6	1124	c.601_601TG>T	c.(601-603)tggfs	p.W201fs	GPR114_uc002elx.4_Frame_Shift_Del_p.W201fs|GPR114_uc010vhr.2_Frame_Shift_Del_p.W201fs	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	201	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTG	0.607												
PMFBP1	83449	broad.mit.edu	37	16	72153725	72153726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:72153724_72153725A>AT	uc002fcc.4	-	19	3219_3220	c.3047_3048T>AT	c.(3046-3048)aatfs	p.N1016fs	PMFBP1_uc002fcd.3_Intron|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Intron	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	1016										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATCACACTTATTTTTTTGACA	0.446												
CHST5	23563	broad.mit.edu	37	16	75563855	75563855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:75563854_75563854GA>G	uc002fej.1	-	4	768	c.447_447TC>C	c.(445-447)ttcfs	p.F149fs	CHST5_uc002fei.3_Frame_Shift_Del_p.F143fs|CHST5_uc021tlk.1_Frame_Shift_Del_p.F143fs	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	143					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGCCCAGTTGAAAAAGGCGG	0.607												
C16orf7	9605	broad.mit.edu	37	16	89775777	89775777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89775776_89775776TG>T	uc002fom.1	-	11	1581	c.1456_1456CA>A	c.(1456-1458)accfs	p.T486fs	C16orf7_uc002fol.1_Frame_Shift_Del_p.T416fs|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	486	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCAATGGCGGTGGGGGGTGCA	0.692												
CPD	1362	broad.mit.edu	37	17	28706683	28706684	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28706682_28706683A>AC	uc002hfb.2	+	0	741_742	c.684_685A>AC	c.(682-687)gaacccfs	p.E228fs	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	228	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCACCGGCGAACCCCCCGCCCT	0.703												
KRT24	192666	broad.mit.edu	37	17	38859836	38859836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38859835_38859835GC>G	uc002hvd.3	-	0	168	c.111_111GC>C	c.(109-111)ggcfs	p.G37fs		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGCCGAGCTGCCCCCCAGAC	0.662												
AOC2	314	broad.mit.edu	37	17	41002339	41002339	+	Frame_Shift_Del	DEL	C	C	-	rs34587880		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:41002338_41002338AC>A	uc002ibu.3	+	3	2279	c.2244_2244AC>A	c.(2242-2244)ttafs	p.L748fs	AOC2_uc002ibt.3_Frame_Shift_Del_p.L721fs|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	748					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCGGACTTACCCCCTTTCT	0.577												
NXPH3	11248	broad.mit.edu	37	17	47656170	47656171	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:47656169_47656170G>GC	uc002ipa.3	+	1	550_551	c.266_267G>GC	c.(265-267)agcfs	p.S89fs		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	89	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCGAACCACAGCCCCCCACCCT	0.624												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
TBX4	9496	broad.mit.edu	37	17	59560345	59560346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:59560344_59560345T>TC	uc010ddo.3	+	8	1271_1272	c.1108_1109T>TC	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Ins_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Ins_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P372fs*14(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTATTTCCGTTCCCCCCCTCCC	0.574												
ABCA5	23461	broad.mit.edu	37	17	67256528	67256528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:67256527_67256527AT>A	uc002jif.2	-	25	4809	c.3591_3591AT>T	c.(3589-3591)aatfs	p.N1197fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.N163fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.N420fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.N114fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.N1197fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1197					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGGTGTCCACATTTTTTCGTA	0.299												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612												
DSEL	92126	broad.mit.edu	37	18	65178347	65178347	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:65178346_65178346TA>T	uc002lke.1	-	1	4754	c.3530_3530TA>A	c.(3529-3531)tacfs	p.Y1177fs	DSEL_uc021ulg.1_Frame_Shift_Del_p.Y1177fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1167						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATAGGGAAGGTAAAAAAGGTT	0.358												
ZNF236	7776	broad.mit.edu	37	18	74617320	74617320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74617319_74617319CA>C	uc002lmi.3	+	12	2437	c.2239_2239CA>C	c.(2239-2241)caafs	p.Q747fs	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	747					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCCTATTGCCAAAAAACATT	0.418												
LMNB2	84823	broad.mit.edu	37	19	2431862	2431862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:2431861_2431861AG>A	uc002lvy.3	-	9	1657	c.1570_1570CT>T	c.(1570-1572)tcgfs	p.S524fs		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	524	Tail.					nuclear inner membrane	structural molecule activity	p.S524fs*23(2)|p.S524L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCGTCGAGGGGGGGCTG	0.677												
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-	rs143745112	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACCAGAGGAGACCCCCCCAGC	0.667												
FBN3	84467	broad.mit.edu	37	19	8193949	8193950	+	Frame_Shift_Ins	INS	-	-	G	rs60853419		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8193948_8193949C>CG	uc002mjf.3	-	16	2276_2277	c.2259_2260G>CG	c.(2257-2262)cccggcfs	p.P753fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599												
POU2F2	5452	broad.mit.edu	37	19	42599544	42599545	+	Frame_Shift_Ins	INS	-	-	CGGATCA			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42599543_42599544G>GCGGATCA	uc002osp.3	-	10	1087_1088	c.1025_1026C>TGATCCGC	c.(1024-1026)cgcfs	p.R342fs	POU2F2_uc002osn.3_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osq.3_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osr.2_Frame_Shift_Ins_p.R342fs	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	342					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGAACCAGACGCGGATCACTTC	0.644												
LENG1	79165	broad.mit.edu	37	19	54660654	54660654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:54660653_54660653CG>C	uc002qdm.3	-	2	436	c.423_423CG>G	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCC	0.637												
PRND	23627	broad.mit.edu	37	20	4705548	4705549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:4705547_4705548A>AG	uc021waf.1	+	0	350_351	c.350_351A>AG	c.(349-351)cagfs	p.Q117fs	PRND_uc002wkz.3_Frame_Shift_Ins_p.Q117fs	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	117	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCGGCGAACCAGGGGGAGTTCC	0.589												
GPCPD1	56261	broad.mit.edu	37	20	5559030	5559030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:5559029_5559029GA>G	uc002wme.4	-	7	915	c.702_702TC>C	c.(700-702)ttcfs	p.F234fs	GPCPD1_uc002wmd.4_Frame_Shift_Del_p.F53fs	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	234					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TACTCACTTCGAAAAAATCAA	0.403												
RALGAPA2	57186	broad.mit.edu	37	20	20601137	20601138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:20601136_20601137A>AT	uc002wrz.3	-	10	1514_1515	c.1371_1372T>AT	c.(1369-1374)aaattafs	p.K457fs	RALGAPA2_uc002wry.3_Frame_Shift_Ins_p.K72fs|RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	457					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAAAATCCTAATTTTTCAGCAT	0.371												
TP53RK	112858	broad.mit.edu	37	20	45315440	45315440	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:45315439_45315439AT>A	uc002xsk.3	-	1	938	c.715_715AT>T	c.(715-717)ttafs	p.L239fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	239	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				ACTTCATCTAATTTTTTTAGC	0.448												
MOCS3	27304	broad.mit.edu	37	20	49576421	49576422	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:49576420_49576421T>TG	uc002xvy.1	+	0	1058_1059	c.1041_1042T>TG	c.(1039-1044)tctgggfs	p.S347fs	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	347	Rhodanese.				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGCTGGATTCTGGGGCATTCCA	0.550												
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACT	0.562												
TUBB1	81027	broad.mit.edu	37	20	57599554	57599554	+	Frame_Shift_Del	DEL	C	C	-	rs148079612	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57599553_57599553GC>G	uc002yak.3	+	3	1340	c.1071_1071GC>G	c.(1069-1071)ccgfs	p.P357fs		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	357					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCGACATCCCGCCCCGGGGGC	0.552												
C21orf59	56683	broad.mit.edu	37	21	33982177	33982177	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:33982176_33982176CT>C	uc002ypy.2	-	1	644	c.279_279AG>G	c.(277-279)aagfs	p.K93fs	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Frame_Shift_Del_p.K93fs|C21orf59_uc002yqc.3_Frame_Shift_Del_p.K93fs|C21orf59_uc010glx.3_Frame_Shift_Del_p.R17fs|C21orf59_uc002yqb.4_Frame_Shift_Del_p.K93fs|C21orf59_uc011adr.2_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	93						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CAATATCATCCTTTTTAAACA	0.393												
DOPEY2	9980	broad.mit.edu	37	21	37618196	37618196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:37618195_37618195GC>G	uc002yvg.3	+	18	3996	c.3917_3917GC>G	c.(3916-3918)tgcfs	p.C1306fs	DOPEY2_uc011aeb.2_Frame_Shift_Del_p.C1255fs|DOPEY2_uc002yvh.3_Frame_Shift_Del_p.C157fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1306					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAACGTGTGCCCCCACTCT	0.597												
CDC42EP1	11135	broad.mit.edu	37	22	37962639	37962640	+	Frame_Shift_Ins	INS	-	-	C	rs150186371		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37962638_37962639G>GC	uc003asz.4	+	1	685_686	c.282_283G>GC	c.(280-285)gcgcccfs	p.A94fs		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	94					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGTGGGGGCGCCCCCCCGGAG	0.693												
FAM83F	113828	broad.mit.edu	37	22	40417800	40417800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:40417799_40417799CG>C	uc003ayk.1	+	3	1379	c.1285_1285CG>C	c.(1285-1287)cggfs	p.R429fs		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	429										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGAAGCGGCCCGGGGGGAGGC	0.667												
PLXNB2	23654	broad.mit.edu	37	22	50728019	50728019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50728018_50728018TG>T	uc003bkv.4	-	2	1089	c.996_996CA>A	c.(994-996)acafs	p.T332fs		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	332	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGGGTGCCTGTGTAACAGG	0.672												
ARSA	410	broad.mit.edu	37	22	51065641	51065642	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:51065640_51065641T>TG	uc003bna.4	-	1	422_423	c.160_161A>CA	c.(160-162)catfs	p.H54fs	ARSA_uc021wsd.1_Frame_Shift_Ins_p.H140fs|ARSA_uc021wse.1_Frame_Shift_Ins_p.H140fs|ARSA_uc021wsf.1_Frame_Shift_Ins_p.H140fs|ARSA_uc003bmz.4_Frame_Shift_Ins_p.H138fs|ARSA_uc010hbf.3_Frame_Shift_Ins_p.H138fs	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	138						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GAAGCCCTGATGGGGGGGCAGG	0.673												
SPANXN2	494119	broad.mit.edu	37	X	142795143	142795143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142795142_142795142TC>T	uc004fbz.3	-	1	1290	c.536_536GA>A	c.(535-537)gagfs	p.E179fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	179										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTAGTCCTCCCCACCCTC	0.468												
